Canonical Allele Identifier: CA2658498977
Gene: SRD5A2 HGNC NCBI

Linked Data

gnomAD v4: 2-31533455-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31533455C>A , CM000664.2:g.31533455C>A GRCh38
NC_000002.11:g.31758525C>A , CM000664.1:g.31758525C>A GRCh37
NC_000002.10:g.31612029C>A NCBI36
NG_008365.1:g.52517G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000622030.2:c.445+148G>T MANE Select ENSP00000477587.1:n.445+148G>T
ENST00000622030.1:c.445+148G>T ENSP00000477587.1:n.445+148G>T
NM_000348.3:c.445+148G>T NP_000339.2:n.445+148G>T
XM_011533068.1:c.445+148G>T XP_011531370.1:n.445+148G>T
XM_011533069.1:c.223+148G>T XP_011531371.1:n.223+148G>T
XM_011533070.1:c.190+148G>T XP_011531372.1:n.190+148G>T
XM_011533071.1:c.190+148G>T XP_011531373.1:n.190+148G>T
XM_011533072.1:c.190+148G>T XP_011531374.1:n.190+148G>T
XM_011533069.2:c.223+148G>T XP_011531371.1:n.223+148G>T
XM_011533072.2:c.190+148G>T XP_011531374.1:n.190+148G>T
NM_000348.4:c.445+148G>T MANE Select NP_000339.2:n.445+148G>T