Canonical Allele Identifier: CA2678088233
Gene: CYP21A2 HGNC NCBI

Linked Data

gnomAD v4: 6-32038367-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32038367T>C , CM000668.2:g.32038367T>C GRCh38
NC_000006.11:g.32006144T>C , CM000668.1:g.32006144T>C GRCh37
NC_000006.10:g.32114123T>C NCBI36
NG_007941.2:g.5063T>C
NG_007941.3:g.5063T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000418967.6:c.-56T>C ENSP00000408860.2:n.-56T>C
ENST00000466779.5:c.-56T>C ENSP00000417321.1:n.-56T>C
ENST00000479074.5:n.3T>C
ENST00000479730.5:n.3T>C
ENST00000486063.5:n.28T>C
NM_000500.7:c.-56T>C NP_000491.4:n.-56T>C
NM_001128590.3:c.-56T>C NP_001122062.3:n.-56T>C
NM_001368143.1:c.-480T>C NP_001355072.1:n.-480T>C
NM_001368144.1:c.-390T>C NP_001355073.1:n.-390T>C