Canonical Allele Identifier: CA2658498116
Gene: SRD5A2 HGNC NCBI

Linked Data

gnomAD v4: 2-31529302-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31529302T>A , CM000664.2:g.31529302T>A GRCh38
NC_000002.11:g.31754372T>A , CM000664.1:g.31754372T>A GRCh37
NC_000002.10:g.31607876T>A NCBI36
NG_008365.1:g.56670A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000622030.2:c.698+5A>T MANE Select ENSP00000477587.1:n.698+5A>T
ENST00000622030.1:c.698+5A>T ENSP00000477587.1:n.698+5A>T
NM_000348.3:c.698+5A>T NP_000339.2:n.698+5A>T
XM_011533069.1:c.476+5A>T XP_011531371.1:n.476+5A>T
XM_011533070.1:c.443+5A>T XP_011531372.1:n.443+5A>T
XM_011533071.1:c.443+5A>T XP_011531373.1:n.443+5A>T
XM_011533072.1:c.443+5A>T XP_011531374.1:n.443+5A>T
XM_011533069.2:c.476+5A>T XP_011531371.1:n.476+5A>T
XM_011533072.2:c.443+5A>T XP_011531374.1:n.443+5A>T
NM_000348.4:c.698+5A>T MANE Select NP_000339.2:n.698+5A>T