Canonical Allele Identifier: CA2576929411
Gene: SRD5A2 HGNC NCBI

Linked Data

gnomAD v4: 2-31529301-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31529301A>G , CM000664.2:g.31529301A>G GRCh38
NC_000002.11:g.31754371A>G , CM000664.1:g.31754371A>G GRCh37
NC_000002.10:g.31607875A>G NCBI36
NG_008365.1:g.56671T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000622030.2:c.698+6T>C MANE Select ENSP00000477587.1:n.698+6T>C
ENST00000622030.1:c.698+6T>C ENSP00000477587.1:n.698+6T>C
NM_000348.3:c.698+6T>C NP_000339.2:n.698+6T>C
XM_011533069.1:c.476+6T>C XP_011531371.1:n.476+6T>C
XM_011533070.1:c.443+6T>C XP_011531372.1:n.443+6T>C
XM_011533071.1:c.443+6T>C XP_011531373.1:n.443+6T>C
XM_011533072.1:c.443+6T>C XP_011531374.1:n.443+6T>C
XM_011533069.2:c.476+6T>C XP_011531371.1:n.476+6T>C
XM_011533072.2:c.443+6T>C XP_011531374.1:n.443+6T>C
NM_000348.4:c.698+6T>C MANE Select NP_000339.2:n.698+6T>C