Canonical Allele Identifier: CA1600013
Community Standard Title: NM_000348.4(SRD5A2):c.196G>A (p.Gly66Arg)
Gene: SRD5A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31580705C>T , CM000664.2:g.31580705C>T GRCh38
NC_000002.11:g.31805775C>T , CM000664.1:g.31805775C>T GRCh37
NC_000002.10:g.31659279C>T NCBI36
NG_008365.1:g.5267G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000348.4:c.196G>A MANE Select NP_000339.2:p.Gly66Arg
ENST00000622030.2:c.196G>A MANE Select ENSP00000477587.1:p.Gly66Arg
NM_000348.3:c.196G>A NP_000339.2:p.Gly66Arg
ENST00000622030.1:c.196G>A ENSP00000477587.1:p.Gly66Arg
XM_011533068.1:c.196G>A XP_011531370.1:p.Gly66Arg
XM_011533070.1:c.27-46939G>A XP_011531372.1:n.27-46939G>A
XM_011533071.1:c.27-46939G>A XP_011531373.1:n.27-46939G>A
XM_011533072.1:c.27-46939G>A XP_011531374.1:n.27-46939G>A
XM_011533072.2:c.27-46939G>A XP_011531374.1:n.27-46939G>A