Canonical Allele Identifier: CA346598932
Gene: SRD5A2 HGNC NCBI

Linked Data

gnomAD v4: 2-31580711-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31580711G>C , CM000664.2:g.31580711G>C GRCh38
NC_000002.11:g.31805781G>C , CM000664.1:g.31805781G>C GRCh37
NC_000002.10:g.31659285G>C NCBI36
NG_008365.1:g.5261C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000622030.2:c.190C>G MANE Select ENSP00000477587.1:p.Pro64Ala
ENST00000622030.1:c.190C>G ENSP00000477587.1:p.Pro64Ala
NM_000348.3:c.190C>G NP_000339.2:p.Pro64Ala
XM_011533068.1:c.190C>G XP_011531370.1:p.Pro64Ala
XM_011533070.1:c.27-46945C>G XP_011531372.1:n.27-46945C>G
XM_011533071.1:c.27-46945C>G XP_011531373.1:n.27-46945C>G
XM_011533072.1:c.27-46945C>G XP_011531374.1:n.27-46945C>G
XM_011533072.2:c.27-46945C>G XP_011531374.1:n.27-46945C>G
NM_000348.4:c.190C>G MANE Select NP_000339.2:p.Pro64Ala