Canonical Allele Identifier: CA2658499054
Gene: SRD5A2 HGNC NCBI

Linked Data

gnomAD v4: 2-31533540-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31533540G>T , CM000664.2:g.31533540G>T GRCh38
NC_000002.11:g.31758610G>T , CM000664.1:g.31758610G>T GRCh37
NC_000002.10:g.31612114G>T NCBI36
NG_008365.1:g.52432C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000622030.2:c.445+63C>A MANE Select ENSP00000477587.1:n.445+63C>A
ENST00000622030.1:c.445+63C>A ENSP00000477587.1:n.445+63C>A
NM_000348.3:c.445+63C>A NP_000339.2:n.445+63C>A
XM_011533068.1:c.445+63C>A XP_011531370.1:n.445+63C>A
XM_011533069.1:c.223+63C>A XP_011531371.1:n.223+63C>A
XM_011533070.1:c.190+63C>A XP_011531372.1:n.190+63C>A
XM_011533071.1:c.190+63C>A XP_011531373.1:n.190+63C>A
XM_011533072.1:c.190+63C>A XP_011531374.1:n.190+63C>A
XM_011533069.2:c.223+63C>A XP_011531371.1:n.223+63C>A
XM_011533072.2:c.190+63C>A XP_011531374.1:n.190+63C>A
NM_000348.4:c.445+63C>A MANE Select NP_000339.2:n.445+63C>A