Canonical Allele Identifier: CA2678088229
Gene: CYP21A2 HGNC NCBI

Linked Data

gnomAD v4: 6-32038362-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32038362A>G , CM000668.2:g.32038362A>G GRCh38
NC_000006.11:g.32006139A>G , CM000668.1:g.32006139A>G GRCh37
NC_000006.10:g.32114118A>G NCBI36
NG_007941.2:g.5058A>G
NG_007941.3:g.5058A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000418967.6:c.-61A>G ENSP00000408860.2:n.-61A>G
ENST00000466779.5:c.-61A>G ENSP00000417321.1:n.-61A>G
ENST00000486063.5:n.23A>G
NM_000500.7:c.-61A>G NP_000491.4:n.-61A>G
NM_001128590.3:c.-61A>G NP_001122062.3:n.-61A>G
NM_001368143.1:c.-485A>G NP_001355072.1:n.-485A>G
NM_001368144.1:c.-395A>G NP_001355073.1:n.-395A>G