Canonical Allele Identifier: CA224895
Community Standard Title: NM_000348.4(SRD5A2):c.210G>A (p.Arg70=)
Gene: SRD5A2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31580691C>T , CM000664.2:g.31580691C>T GRCh38
NC_000002.11:g.31805761C>T , CM000664.1:g.31805761C>T GRCh37
NC_000002.10:g.31659265C>T NCBI36
NG_008365.1:g.5281G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000348.4:c.210G>A MANE Select NP_000339.2:p.Arg70=
ENST00000622030.2:c.210G>A MANE Select ENSP00000477587.1:p.Arg70=
NM_000348.3:c.210G>A NP_000339.2:p.Arg70=
ENST00000622030.1:c.210G>A ENSP00000477587.1:p.Arg70=
XM_011533068.1:c.210G>A XP_011531370.1:p.Arg70=
XM_011533070.1:c.27-46925G>A XP_011531372.1:n.27-46925G>A
XM_011533071.1:c.27-46925G>A XP_011531373.1:n.27-46925G>A
XM_011533072.1:c.27-46925G>A XP_011531374.1:n.27-46925G>A
XM_011533072.2:c.27-46925G>A XP_011531374.1:n.27-46925G>A
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