Canonical Allele Identifier: CA1087498937
Gene: CYP21A2 HGNC NCBI

Linked Data

gnomAD v3: 6-32039955-A-C
gnomAD v4: 6-32039955-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32039955A>C , CM000668.2:g.32039955A>C GRCh38
NC_000006.11:g.32007732A>C , CM000668.1:g.32007732A>C GRCh37
NC_000006.10:g.32115711A>C NCBI36
NG_007941.2:g.6648A>C
NG_008337.2:g.74420T>G
NG_007941.3:g.6651A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.739-50A>C MANE Select ENSP00000496625.1:n.739-50A>C
ENST00000418967.6:c.739-50A>C ENSP00000408860.2:n.739-50A>C
ENST00000435122.3:c.649-50A>C ENSP00000415043.2:n.649-50A>C
ENST00000462278.1:n.547A>C
ENST00000479074.5:n.797-50A>C
ENST00000479730.5:n.855-50A>C
ENST00000483041.5:n.908-50A>C
ENST00000486063.5:n.918+120A>C
NM_000500.7:c.739-50A>C NP_000491.4:n.739-50A>C
NM_001128590.3:c.649-50A>C NP_001122062.3:n.649-50A>C
XM_011514314.1:c.334-50A>C XP_011512616.1:n.334-50A>C
NM_000500.9:c.739-50A>C MANE Select NP_000491.4:n.739-50A>C
NM_001368143.1:c.334-50A>C NP_001355072.1:n.334-50A>C
NM_001368144.1:c.334-50A>C NP_001355073.1:n.334-50A>C
NM_001128590.4:c.649-50A>C NP_001122062.3:n.649-50A>C
NM_001368143.2:c.334-50A>C NP_001355072.1:n.334-50A>C
NM_001368144.2:c.334-50A>C NP_001355073.1:n.334-50A>C