Canonical Allele Identifier: CA346598428
Gene: SRD5A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31533616T>C , CM000664.2:g.31533616T>C GRCh38
NC_000002.11:g.31758686T>C , CM000664.1:g.31758686T>C GRCh37
NC_000002.10:g.31612190T>C NCBI36
NG_008365.1:g.52356A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000622030.2:c.432A>G MANE Select ENSP00000477587.1:p.Ile144Met
ENST00000622030.1:c.432A>G ENSP00000477587.1:p.Ile144Met
NM_000348.3:c.432A>G NP_000339.2:p.Ile144Met
XM_011533068.1:c.432A>G XP_011531370.1:p.Ile144Met
XM_011533069.1:c.210A>G XP_011531371.1:p.Ile70Met
XM_011533070.1:c.177A>G XP_011531372.1:p.Ile59Met
XM_011533071.1:c.177A>G XP_011531373.1:p.Ile59Met
XM_011533072.1:c.177A>G XP_011531374.1:p.Ile59Met
XM_011533069.2:c.210A>G XP_011531371.1:p.Ile70Met
XM_011533072.2:c.177A>G XP_011531374.1:p.Ile59Met
NM_000348.4:c.432A>G MANE Select NP_000339.2:p.Ile144Met