Canonical Allele Identifier: CA1599996
Gene: SRD5A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 492899
dbSNP Id: rs201175894
gnomAD v2: 2-31805700-A-G
gnomAD v3: 2-31580630-A-G
gnomAD v4: 2-31580630-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31580630A>G , CM000664.2:g.31580630A>G GRCh38
NC_000002.11:g.31805700A>G , CM000664.1:g.31805700A>G GRCh37
NC_000002.10:g.31659204A>G NCBI36
NG_008365.1:g.5342T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000622030.2:c.271T>C MANE Select ENSP00000477587.1:p.Tyr91His
ENST00000622030.1:c.271T>C ENSP00000477587.1:p.Tyr91His
NM_000348.3:c.271T>C NP_000339.2:p.Tyr91His
XM_011533068.1:c.271T>C XP_011531370.1:p.Tyr91His
XM_011533070.1:c.27-46864T>C XP_011531372.1:n.27-46864T>C
XM_011533071.1:c.27-46864T>C XP_011531373.1:n.27-46864T>C
XM_011533072.1:c.27-46864T>C XP_011531374.1:n.27-46864T>C
XM_011533072.2:c.27-46864T>C XP_011531374.1:n.27-46864T>C
NM_000348.4:c.271T>C MANE Select NP_000339.2:p.Tyr91His