Canonical Allele Identifier: CA2576929458
Gene: SRD5A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31531361del , CM000664.2:g.31531361del GRCh38
NC_000002.11:g.31756431del , CM000664.1:g.31756431del GRCh37
NC_000002.10:g.31609935del NCBI36
NG_008365.1:g.54614del

Transcript Alleles

HGVS Amino-acid Change
ENST00000622030.2:c.547+13del MANE Select ENSP00000477587.1:n.547+13del
ENST00000622030.1:c.547+13del ENSP00000477587.1:n.547+13del
NM_000348.3:c.547+13del NP_000339.2:n.547+13del
XM_011533069.1:c.325+13del XP_011531371.1:n.325+13del
XM_011533070.1:c.292+13del XP_011531372.1:n.292+13del
XM_011533071.1:c.292+13del XP_011531373.1:n.292+13del
XM_011533072.1:c.292+13del XP_011531374.1:n.292+13del
XM_011533069.2:c.325+13del XP_011531371.1:n.325+13del
XM_011533072.2:c.292+13del XP_011531374.1:n.292+13del
NM_000348.4:c.547+13del MANE Select NP_000339.2:n.547+13del