Canonical Allele Identifier: CA346598082
Gene: SRD5A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31529426A>C , CM000664.2:g.31529426A>C GRCh38
NC_000002.11:g.31754496A>C , CM000664.1:g.31754496A>C GRCh37
NC_000002.10:g.31608000A>C NCBI36
NG_008365.1:g.56546T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000622030.2:c.579T>G MANE Select ENSP00000477587.1:p.Asn193Lys
ENST00000622030.1:c.579T>G ENSP00000477587.1:p.Asn193Lys
NM_000348.3:c.579T>G NP_000339.2:p.Asn193Lys
XM_011533069.1:c.357T>G XP_011531371.1:p.Asn119Lys
XM_011533070.1:c.324T>G XP_011531372.1:p.Asn108Lys
XM_011533071.1:c.324T>G XP_011531373.1:p.Asn108Lys
XM_011533072.1:c.324T>G XP_011531374.1:p.Asn108Lys
XM_011533069.2:c.357T>G XP_011531371.1:p.Asn119Lys
XM_011533072.2:c.324T>G XP_011531374.1:p.Asn108Lys
NM_000348.4:c.579T>G MANE Select NP_000339.2:p.Asn193Lys