Canonical Allele Identifier: CA427138614
Gene: ST3GAL5 HGNC NCBI

Linked Data

gnomAD v4: 2-85861193-A-C
MyVariant Identifiers: chr2:g.86088316A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.85861193A>C , CM000664.2:g.85861193A>C GRCh38
NC_000002.11:g.86088316A>C , CM000664.1:g.86088316A>C GRCh37
NC_000002.10:g.85941827A>C NCBI36
NG_012807.1:g.32842T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000306262.10:c.*50T>G ENSP00000306247.6:n.*50T>G
ENST00000377332.8:c.306T>G ENSP00000366549.4:p.Pro102=
ENST00000393805.6:c.222T>G ENSP00000377394.1:p.Pro74=
ENST00000393808.8:c.237T>G ENSP00000377397.3:p.Pro79=
ENST00000433665.6:c.*349T>G ENSP00000408635.1:n.*349T>G
ENST00000461199.6:n.758T>G
ENST00000461892.6:n.311T>G
ENST00000473122.6:c.306T>G ENSP00000491314.1:p.Pro102=
ENST00000484728.6:n.317T>G
ENST00000638178.1:c.222T>G ENSP00000492103.1:p.Pro74=
ENST00000638227.1:c.*349T>G ENSP00000492602.1:n.*349T>G
ENST00000638288.1:c.222T>G ENSP00000491699.1:p.Pro74=
ENST00000638321.1:c.203T>G
ENST00000638484.1:c.*349T>G ENSP00000492635.1:n.*349T>G
ENST00000638523.1:c.203T>G
ENST00000638542.1:c.206+2169T>G ENSP00000492468.1:n.206+2169T>G
ENST00000638572.2:c.306T>G MANE Select ENSP00000491316.1:p.Pro102=
ENST00000638581.1:n.332T>G
ENST00000638659.1:c.492T>G
ENST00000638678.1:c.304T>G
ENST00000638855.1:c.206+2169T>G ENSP00000490979.1:n.206+2169T>G
ENST00000638885.1:c.306T>G ENSP00000492209.1:p.Pro102=
ENST00000638956.1:c.306T>G ENSP00000492097.1:p.Pro102=
ENST00000638986.1:c.222T>G ENSP00000491853.1:p.Pro74=
ENST00000639119.1:c.306T>G ENSP00000492045.1:p.Pro102=
ENST00000639184.1:c.222T>G ENSP00000492305.1:p.Pro74=
ENST00000639202.1:c.189T>G ENSP00000492710.1:p.Pro63=
ENST00000639216.1:n.328T>G
ENST00000639305.1:c.304T>G
ENST00000639311.1:c.306T>G ENSP00000491398.1:p.Pro102=
ENST00000639421.1:c.493T>G ENSP00000491029.1:n.493T>G
ENST00000639432.1:c.222T>G ENSP00000491828.1:p.Pro74=
ENST00000639519.1:c.108T>G ENSP00000491857.1:p.Pro36=
ENST00000639541.1:c.306T>G ENSP00000492280.1:p.Pro102=
ENST00000639608.1:c.306T>G ENSP00000492473.1:p.Pro102=
ENST00000639690.1:c.406T>G ENSP00000491917.1:n.406T>G
ENST00000639820.1:c.*563T>G ENSP00000491802.1:n.*563T>G
ENST00000639945.1:c.306T>G ENSP00000492866.1:p.Pro102=
ENST00000639981.1:c.212T>G
ENST00000640024.1:c.306T>G ENSP00000491238.1:p.Pro102=
ENST00000640222.1:c.227T>G
ENST00000640295.1:c.493T>G ENSP00000491027.1:n.493T>G
ENST00000640314.1:c.469T>G ENSP00000491315.1:n.469T>G
ENST00000640315.1:c.282T>G ENSP00000492089.1:p.Pro94=
ENST00000640322.1:c.222T>G ENSP00000491564.1:p.Pro74=
ENST00000640378.1:c.39T>G ENSP00000492030.1:p.Pro13=
ENST00000640418.1:c.363T>G ENSP00000492098.1:p.Pro121=
ENST00000640425.1:c.289T>G
ENST00000640572.1:c.289T>G
ENST00000640594.1:c.*349T>G ENSP00000491356.1:n.*349T>G
ENST00000640763.1:c.25T>G
ENST00000640835.1:c.188T>G
ENST00000640849.1:c.201T>G ENSP00000491701.1:p.Pro67=
ENST00000640903.1:c.392T>G
ENST00000640982.1:c.222T>G ENSP00000492299.1:p.Pro74=
ENST00000640992.1:c.222T>G ENSP00000492753.1:p.Pro74=
ENST00000306262.9:c.306T>G ENSP00000306247.5:p.Pro102=
ENST00000377332.7:c.306T>G ENSP00000366549.3:p.Pro102=
ENST00000393805.5:c.222T>G ENSP00000377394.1:p.Pro74=
ENST00000393808.7:c.237T>G ENSP00000377397.3:p.Pro79=
ENST00000433665.5:c.*349T>G ENSP00000408635.1:n.*349T>G
ENST00000455892.1:c.222T>G ENSP00000401375.1:p.Pro74=
ENST00000461199.5:n.311T>G
ENST00000461892.5:n.309T>G
ENST00000473122.5:n.278T>G
ENST00000484728.5:n.312T>G
NM_001042437.1:c.237T>G NP_001035902.1:p.Pro79=
NM_003896.3:c.306T>G NP_003887.3:p.Pro102=
XM_005264630.3:c.306T>G XP_005264687.1:p.Pro102=
XM_011533143.1:c.-256T>G XP_011531445.1:n.-256T>G
XR_939734.1:n.391T>G
XR_939735.1:n.391T>G
XR_939736.1:n.391T>G
NM_001354223.1:c.-256T>G NP_001341152.1:n.-256T>G
NM_001354224.1:c.-319T>G NP_001341153.1:n.-319T>G
NM_001354226.1:c.-256T>G NP_001341155.1:n.-256T>G
NM_001354227.1:c.222T>G NP_001341156.1:p.Pro74=
NM_001354229.1:c.222T>G NP_001341158.1:p.Pro74=
NM_001354233.1:c.-696T>G NP_001341162.1:n.-696T>G
NM_001354234.1:c.-660T>G NP_001341163.1:n.-660T>G
NM_001354238.1:c.222T>G NP_001341167.1:p.Pro74=
NM_001363847.1:c.306T>G NP_001350776.1:p.Pro102=
XM_017005202.2:c.222T>G XP_016860691.1:p.Pro74=
XM_017005203.2:c.-759T>G XP_016860692.1:n.-759T>G
XM_017005204.2:c.-759T>G XP_016860693.1:n.-759T>G
XM_017005205.2:c.-751T>G XP_016860694.1:n.-751T>G
XM_017005206.2:c.-660T>G XP_016860695.1:n.-660T>G
XM_017005208.2:c.-660T>G XP_016860697.1:n.-660T>G
XM_017005209.1:c.-311T>G XP_016860698.1:n.-311T>G
XM_017005212.2:c.-220T>G XP_016860701.1:n.-220T>G
XM_017005214.2:c.-256T>G XP_016860703.1:n.-256T>G
XR_001739019.1:n.391T>G
XR_001739020.1:n.391T>G
XR_001739021.1:n.391T>G
NM_003896.4:c.306T>G MANE Select NP_003887.3:p.Pro102=
NM_001042437.2:c.237T>G NP_001035902.1:p.Pro79=
NM_001354223.2:c.-256T>G NP_001341152.1:n.-256T>G
NM_001354224.2:c.-319T>G NP_001341153.1:n.-319T>G
NM_001354226.2:c.-256T>G NP_001341155.1:n.-256T>G
NM_001354227.2:c.222T>G NP_001341156.1:p.Pro74=
NM_001354229.2:c.222T>G NP_001341158.1:p.Pro74=
NM_001354233.2:c.-696T>G NP_001341162.1:n.-696T>G