Canonical Allele Identifier: CA346598199
Gene: SRD5A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31531390G>C , CM000664.2:g.31531390G>C GRCh38
NC_000002.11:g.31756460G>C , CM000664.1:g.31756460G>C GRCh37
NC_000002.10:g.31609964G>C NCBI36
NG_008365.1:g.54582C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000622030.2:c.528C>G MANE Select ENSP00000477587.1:p.Ile176Met
ENST00000622030.1:c.528C>G ENSP00000477587.1:p.Ile176Met
NM_000348.3:c.528C>G NP_000339.2:p.Ile176Met
XM_011533069.1:c.306C>G XP_011531371.1:p.Ile102Met
XM_011533070.1:c.273C>G XP_011531372.1:p.Ile91Met
XM_011533071.1:c.273C>G XP_011531373.1:p.Ile91Met
XM_011533072.1:c.273C>G XP_011531374.1:p.Ile91Met
XM_011533069.2:c.306C>G XP_011531371.1:p.Ile102Met
XM_011533072.2:c.273C>G XP_011531374.1:p.Ile91Met
NM_000348.4:c.528C>G MANE Select NP_000339.2:p.Ile176Met