Canonical Allele Identifier: CA425560166
Gene: SRD5A2 HGNC NCBI

Linked Data

dbSNP Id: rs1251521581
gnomAD v3: 2-31523963-C-T
gnomAD v4: 2-31523963-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31523963C>T , CM000664.2:g.31523963C>T GRCh38
NC_000002.11:g.31749033C>T , CM000664.1:g.31749033C>T GRCh37
NC_000002.10:g.31602537C>T NCBI36
NG_008365.1:g.62009G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000622030.2:c.*2233G>A MANE Select ENSP00000477587.1:n.*2233G>A
ENST00000622030.1:c.*2233G>A ENSP00000477587.1:n.*2233G>A
XM_011533069.1:c.*2233G>A XP_011531371.1:n.*2233G>A
XM_011533070.1:c.*2233G>A XP_011531372.1:n.*2233G>A
XM_011533071.1:c.*2233G>A XP_011531373.1:n.*2233G>A
XM_011533072.1:c.*2233G>A XP_011531374.1:n.*2233G>A
XM_011533069.2:c.*2233G>A XP_011531371.1:n.*2233G>A
XM_011533072.2:c.*2233G>A XP_011531374.1:n.*2233G>A
NM_000348.4:c.*2233G>A MANE Select NP_000339.2:n.*2233G>A