Canonical Allele Identifier: CA346598787
Gene: SRD5A2 HGNC NCBI

Linked Data

gnomAD v4: 2-31580633-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31580633G>C , CM000664.2:g.31580633G>C GRCh38
NC_000002.11:g.31805703G>C , CM000664.1:g.31805703G>C GRCh37
NC_000002.10:g.31659207G>C NCBI36
NG_008365.1:g.5339C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000622030.2:c.268C>G MANE Select ENSP00000477587.1:p.His90Asp
ENST00000622030.1:c.268C>G ENSP00000477587.1:p.His90Asp
NM_000348.3:c.268C>G NP_000339.2:p.His90Asp
XM_011533068.1:c.268C>G XP_011531370.1:p.His90Asp
XM_011533070.1:c.27-46867C>G XP_011531372.1:n.27-46867C>G
XM_011533071.1:c.27-46867C>G XP_011531373.1:n.27-46867C>G
XM_011533072.1:c.27-46867C>G XP_011531374.1:n.27-46867C>G
XM_011533072.2:c.27-46867C>G XP_011531374.1:n.27-46867C>G
NM_000348.4:c.268C>G MANE Select NP_000339.2:p.His90Asp