Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85861198C>T , CM000664.2:g.85861198C>T	GRCh38
NC_000002.11:g.86088321C>T , CM000664.1:g.86088321C>T	GRCh37
NC_000002.10:g.85941832C>T	NCBI36
NG_012807.1:g.32837G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306262.10:c.*45G>A	ENSP00000306247.6:n.*45G>A
ENST00000377332.8:c.301G>A	ENSP00000366549.4:p.Asp101Asn
ENST00000393805.6:c.217G>A	ENSP00000377394.1:p.Asp73Asn
ENST00000393808.8:c.232G>A	ENSP00000377397.3:p.Asp78Asn
ENST00000433665.6:c.*344G>A	ENSP00000408635.1:n.*344G>A
ENST00000461199.6:n.753G>A
ENST00000461892.6:n.306G>A
ENST00000473122.6:c.301G>A	ENSP00000491314.1:p.Asp101Asn
ENST00000484728.6:n.312G>A
ENST00000638178.1:c.217G>A	ENSP00000492103.1:p.Asp73Asn
ENST00000638227.1:c.*344G>A	ENSP00000492602.1:n.*344G>A
ENST00000638288.1:c.217G>A	ENSP00000491699.1:p.Asp73Asn
ENST00000638321.1:c.198G>A
ENST00000638484.1:c.*344G>A	ENSP00000492635.1:n.*344G>A
ENST00000638523.1:c.198G>A
ENST00000638542.1:c.206+2164G>A	ENSP00000492468.1:n.206+2164G>A
ENST00000638572.2:c.301G>A MANE Select	ENSP00000491316.1:p.Asp101Asn
ENST00000638581.1:n.327G>A
ENST00000638659.1:c.487G>A
ENST00000638678.1:c.299G>A
ENST00000638855.1:c.206+2164G>A	ENSP00000490979.1:n.206+2164G>A
ENST00000638885.1:c.301G>A	ENSP00000492209.1:p.Asp101Asn
ENST00000638956.1:c.301G>A	ENSP00000492097.1:p.Asp101Asn
ENST00000638986.1:c.217G>A	ENSP00000491853.1:p.Asp73Asn
ENST00000639119.1:c.301G>A	ENSP00000492045.1:p.Asp101Asn
ENST00000639184.1:c.217G>A	ENSP00000492305.1:p.Asp73Asn
ENST00000639202.1:c.184G>A	ENSP00000492710.1:p.Asp62Asn
ENST00000639216.1:n.323G>A
ENST00000639305.1:c.299G>A
ENST00000639311.1:c.301G>A	ENSP00000491398.1:p.Asp101Asn
ENST00000639421.1:c.488G>A	ENSP00000491029.1:n.488G>A
ENST00000639432.1:c.217G>A	ENSP00000491828.1:p.Asp73Asn
ENST00000639519.1:c.103G>A	ENSP00000491857.1:p.Asp35Asn
ENST00000639541.1:c.301G>A	ENSP00000492280.1:p.Asp101Asn
ENST00000639608.1:c.301G>A	ENSP00000492473.1:p.Asp101Asn
ENST00000639690.1:c.401G>A	ENSP00000491917.1:n.401G>A
ENST00000639820.1:c.*558G>A	ENSP00000491802.1:n.*558G>A
ENST00000639945.1:c.301G>A	ENSP00000492866.1:p.Asp101Asn
ENST00000639981.1:c.207G>A
ENST00000640024.1:c.301G>A	ENSP00000491238.1:p.Asp101Asn
ENST00000640222.1:c.222G>A
ENST00000640295.1:c.488G>A	ENSP00000491027.1:n.488G>A
ENST00000640314.1:c.464G>A	ENSP00000491315.1:n.464G>A
ENST00000640315.1:c.277G>A	ENSP00000492089.1:p.Asp93Asn
ENST00000640322.1:c.217G>A	ENSP00000491564.1:p.Asp73Asn
ENST00000640378.1:c.34G>A	ENSP00000492030.1:p.Asp12Asn
ENST00000640418.1:c.358G>A	ENSP00000492098.1:p.Asp120Asn
ENST00000640425.1:c.284G>A
ENST00000640572.1:c.284G>A
ENST00000640594.1:c.*344G>A	ENSP00000491356.1:n.*344G>A
ENST00000640763.1:c.20G>A
ENST00000640835.1:c.183G>A
ENST00000640849.1:c.196G>A	ENSP00000491701.1:p.Asp66Asn
ENST00000640903.1:c.387G>A
ENST00000640982.1:c.217G>A	ENSP00000492299.1:p.Asp73Asn
ENST00000640992.1:c.217G>A	ENSP00000492753.1:p.Asp73Asn
ENST00000306262.9:c.301G>A	ENSP00000306247.5:p.Asp101Asn
ENST00000377332.7:c.301G>A	ENSP00000366549.3:p.Asp101Asn
ENST00000393805.5:c.217G>A	ENSP00000377394.1:p.Asp73Asn
ENST00000393808.7:c.232G>A	ENSP00000377397.3:p.Asp78Asn
ENST00000433665.5:c.*344G>A	ENSP00000408635.1:n.*344G>A
ENST00000455892.1:c.217G>A	ENSP00000401375.1:p.Asp73Asn
ENST00000461199.5:n.306G>A
ENST00000461892.5:n.304G>A
ENST00000473122.5:n.273G>A
ENST00000484728.5:n.307G>A
NM_001042437.1:c.232G>A	NP_001035902.1:p.Asp78Asn
NM_003896.3:c.301G>A	NP_003887.3:p.Asp101Asn
XM_005264630.3:c.301G>A	XP_005264687.1:p.Asp101Asn
XM_011533143.1:c.-261G>A	XP_011531445.1:n.-261G>A
XR_939734.1:n.386G>A
XR_939735.1:n.386G>A
XR_939736.1:n.386G>A
NM_001354223.1:c.-261G>A	NP_001341152.1:n.-261G>A
NM_001354224.1:c.-324G>A	NP_001341153.1:n.-324G>A
NM_001354226.1:c.-261G>A	NP_001341155.1:n.-261G>A
NM_001354227.1:c.217G>A	NP_001341156.1:p.Asp73Asn
NM_001354229.1:c.217G>A	NP_001341158.1:p.Asp73Asn
NM_001354233.1:c.-701G>A	NP_001341162.1:n.-701G>A
NM_001354234.1:c.-665G>A	NP_001341163.1:n.-665G>A
NM_001354238.1:c.217G>A	NP_001341167.1:p.Asp73Asn
NM_001363847.1:c.301G>A	NP_001350776.1:p.Asp101Asn
XM_017005202.2:c.217G>A	XP_016860691.1:p.Asp73Asn
XM_017005203.2:c.-764G>A	XP_016860692.1:n.-764G>A
XM_017005204.2:c.-764G>A	XP_016860693.1:n.-764G>A
XM_017005205.2:c.-756G>A	XP_016860694.1:n.-756G>A
XM_017005206.2:c.-665G>A	XP_016860695.1:n.-665G>A
XM_017005208.2:c.-665G>A	XP_016860697.1:n.-665G>A
XM_017005209.1:c.-316G>A	XP_016860698.1:n.-316G>A
XM_017005212.2:c.-225G>A	XP_016860701.1:n.-225G>A
XM_017005214.2:c.-261G>A	XP_016860703.1:n.-261G>A
XR_001739019.1:n.386G>A
XR_001739020.1:n.386G>A
XR_001739021.1:n.386G>A
NM_003896.4:c.301G>A MANE Select	NP_003887.3:p.Asp101Asn
NM_001042437.2:c.232G>A	NP_001035902.1:p.Asp78Asn
NM_001354223.2:c.-261G>A	NP_001341152.1:n.-261G>A
NM_001354224.2:c.-324G>A	NP_001341153.1:n.-324G>A
NM_001354226.2:c.-261G>A	NP_001341155.1:n.-261G>A
NM_001354227.2:c.217G>A	NP_001341156.1:p.Asp73Asn
NM_001354229.2:c.217G>A	NP_001341158.1:p.Asp73Asn
NM_001354233.2:c.-701G>A	NP_001341162.1:n.-701G>A

Linked Data

Genomic Alleles

Transcript Alleles