Canonical Allele Identifier: CA346598789
Gene: SRD5A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31580635A>C , CM000664.2:g.31580635A>C GRCh38
NC_000002.11:g.31805705A>C , CM000664.1:g.31805705A>C GRCh37
NC_000002.10:g.31659209A>C NCBI36
NG_008365.1:g.5337T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000622030.2:c.266T>G MANE Select ENSP00000477587.1:p.Leu89Arg
ENST00000622030.1:c.266T>G ENSP00000477587.1:p.Leu89Arg
NM_000348.3:c.266T>G NP_000339.2:p.Leu89Arg
XM_011533068.1:c.266T>G XP_011531370.1:p.Leu89Arg
XM_011533070.1:c.27-46869T>G XP_011531372.1:n.27-46869T>G
XM_011533071.1:c.27-46869T>G XP_011531373.1:n.27-46869T>G
XM_011533072.1:c.27-46869T>G XP_011531374.1:n.27-46869T>G
XM_011533072.2:c.27-46869T>G XP_011531374.1:n.27-46869T>G
NM_000348.4:c.266T>G MANE Select NP_000339.2:p.Leu89Arg