Canonical Allele Identifier: CA2658498490
Gene: SRD5A2 HGNC NCBI

Linked Data

gnomAD v4: 2-31531298-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31531298T>C , CM000664.2:g.31531298T>C GRCh38
NC_000002.11:g.31756368T>C , CM000664.1:g.31756368T>C GRCh37
NC_000002.10:g.31609872T>C NCBI36
NG_008365.1:g.54674A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000622030.2:c.547+73A>G MANE Select ENSP00000477587.1:n.547+73A>G
ENST00000622030.1:c.547+73A>G ENSP00000477587.1:n.547+73A>G
NM_000348.3:c.547+73A>G NP_000339.2:n.547+73A>G
XM_011533069.1:c.325+73A>G XP_011531371.1:n.325+73A>G
XM_011533070.1:c.292+73A>G XP_011531372.1:n.292+73A>G
XM_011533071.1:c.292+73A>G XP_011531373.1:n.292+73A>G
XM_011533072.1:c.292+73A>G XP_011531374.1:n.292+73A>G
XM_011533069.2:c.325+73A>G XP_011531371.1:n.325+73A>G
XM_011533072.2:c.292+73A>G XP_011531374.1:n.292+73A>G
NM_000348.4:c.547+73A>G MANE Select NP_000339.2:n.547+73A>G