Canonical Allele Identifier: CA367655669
Gene: GUSB HGNC NCBI

Linked Data

dbSNP Id: rs1183614650
gnomAD v2: 7-65447139-G-C
gnomAD v3: 7-65982152-G-C
gnomAD v4: 7-65982152-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.65982152G>C , CM000669.2:g.65982152G>C GRCh38
NC_000007.13:g.65447139G>C , CM000669.1:g.65447139G>C GRCh37
NC_000007.12:g.65084574G>C NCBI36
NG_016197.1:g.5163C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000304895.9:c.32C>G MANE Select ENSP00000302728.4:p.Ala11Gly
ENST00000304895.8:c.32C>G ENSP00000302728.4:p.Ala11Gly
ENST00000421103.5:c.32C>G ENSP00000391390.1:p.Ala11Gly
ENST00000430730.5:c.32C>G ENSP00000411859.1:p.Ala11Gly
ENST00000446111.1:c.32C>G ENSP00000416793.1:p.Ala11Gly
ENST00000447929.5:c.32C>G ENSP00000411262.1:p.Ala11Gly
NM_000181.3:c.32C>G NP_000172.2:p.Ala11Gly
NM_001284290.1:c.32C>G NP_001271219.1:p.Ala11Gly
NM_001293104.1:c.-354C>G NP_001280033.1:n.-354C>G
NM_001293105.1:c.-298C>G NP_001280034.1:n.-298C>G
NR_120531.1:n.163C>G
XM_005250297.3:c.32C>G XP_005250354.1:p.Ala11Gly
XM_011516113.1:c.-298C>G XP_011514415.1:n.-298C>G
XR_927461.1:n.158C>G
XM_005250297.4:c.32C>G XP_005250354.1:p.Ala11Gly
XM_011516114.2:c.-654C>G XP_011514416.1:n.-654C>G
XM_017012091.1:c.-298C>G XP_016867580.1:n.-298C>G
XM_017012092.1:c.-354C>G XP_016867581.1:n.-354C>G
XM_017012093.2:c.-654C>G XP_016867582.1:n.-654C>G
XR_001744658.2:n.77C>G
XR_001744659.2:n.77C>G
XR_001744660.2:n.77C>G
XR_001744661.2:n.77C>G
XR_927461.3:n.77C>G
NM_000181.4:c.32C>G MANE Select NP_000172.2:p.Ala11Gly
NM_001284290.2:c.32C>G NP_001271219.1:p.Ala11Gly
NM_001293104.2:c.-354C>G NP_001280033.1:n.-354C>G
NM_001293105.2:c.-298C>G NP_001280034.1:n.-298C>G
NR_120531.2:n.62C>G