Canonical Allele Identifier: CA346598983
Gene: SRD5A2 HGNC NCBI

Linked Data

gnomAD v4: 2-31580735-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31580735G>T , CM000664.2:g.31580735G>T GRCh38
NC_000002.11:g.31805805G>T , CM000664.1:g.31805805G>T GRCh37
NC_000002.10:g.31659309G>T NCBI36
NG_008365.1:g.5237C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000622030.2:c.166C>A MANE Select ENSP00000477587.1:p.Gln56Lys
ENST00000622030.1:c.166C>A ENSP00000477587.1:p.Gln56Lys
NM_000348.3:c.166C>A NP_000339.2:p.Gln56Lys
XM_011533068.1:c.166C>A XP_011531370.1:p.Gln56Lys
XM_011533070.1:c.27-46969C>A XP_011531372.1:n.27-46969C>A
XM_011533071.1:c.27-46969C>A XP_011531373.1:n.27-46969C>A
XM_011533072.1:c.27-46969C>A XP_011531374.1:n.27-46969C>A
XM_011533072.2:c.27-46969C>A XP_011531374.1:n.27-46969C>A
NM_000348.4:c.166C>A MANE Select NP_000339.2:p.Gln56Lys