Canonical Allele Identifier: CA767758531
Community Standard Title: NM_000348.4(SRD5A2):c.698+299C>A
Gene: SRD5A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31529008G>T , CM000664.2:g.31529008G>T GRCh38
NC_000002.11:g.31754078G>T , CM000664.1:g.31754078G>T GRCh37
NC_000002.10:g.31607582G>T NCBI36
NG_008365.1:g.56964C>A

Transcript Alleles

HGVS Amino-acid Change
NM_000348.4:c.698+299C>A MANE Select NP_000339.2:n.698+299C>A
ENST00000622030.2:c.698+299C>A MANE Select ENSP00000477587.1:n.698+299C>A
NM_000348.3:c.698+299C>A NP_000339.2:n.698+299C>A
ENST00000622030.1:c.698+299C>A ENSP00000477587.1:n.698+299C>A
XM_011533069.1:c.476+299C>A XP_011531371.1:n.476+299C>A
XM_011533069.2:c.476+299C>A XP_011531371.1:n.476+299C>A
XM_011533070.1:c.443+299C>A XP_011531372.1:n.443+299C>A
XM_011533071.1:c.443+299C>A XP_011531373.1:n.443+299C>A
XM_011533072.1:c.443+299C>A XP_011531374.1:n.443+299C>A
XM_011533072.2:c.443+299C>A XP_011531374.1:n.443+299C>A