Canonical Allele Identifier: CA346598995
Gene: SRD5A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31580741A>T , CM000664.2:g.31580741A>T GRCh38
NC_000002.11:g.31805811A>T , CM000664.1:g.31805811A>T GRCh37
NC_000002.10:g.31659315A>T NCBI36
NG_008365.1:g.5231T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000622030.2:c.160T>A MANE Select ENSP00000477587.1:p.Phe54Ile
ENST00000622030.1:c.160T>A ENSP00000477587.1:p.Phe54Ile
NM_000348.3:c.160T>A NP_000339.2:p.Phe54Ile
XM_011533068.1:c.160T>A XP_011531370.1:p.Phe54Ile
XM_011533070.1:c.27-46975T>A XP_011531372.1:n.27-46975T>A
XM_011533071.1:c.27-46975T>A XP_011531373.1:n.27-46975T>A
XM_011533072.1:c.27-46975T>A XP_011531374.1:n.27-46975T>A
XM_011533072.2:c.27-46975T>A XP_011531374.1:n.27-46975T>A
NM_000348.4:c.160T>A MANE Select NP_000339.2:p.Phe54Ile