Canonical Allele Identifier: CA2678089754
Gene: CYP21A2 HGNC NCBI

Linked Data

gnomAD v4: 6-32040653-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32040653T>C , CM000668.2:g.32040653T>C GRCh38
NC_000006.11:g.32008430T>C , CM000668.1:g.32008430T>C GRCh37
NC_000006.10:g.32116409T>C NCBI36
NG_007941.2:g.7346T>C
NG_008337.2:g.73722A>G
NG_007941.3:g.7349T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.1119-15T>C MANE Select ENSP00000496625.1:n.1119-15T>C
ENST00000418967.6:c.1119-15T>C ENSP00000408860.2:n.1119-15T>C
ENST00000435122.3:c.1029-15T>C ENSP00000415043.2:n.1029-15T>C
ENST00000479074.5:n.1245T>C
ENST00000479730.5:n.1235-15T>C
ENST00000483041.5:n.1288-15T>C
ENST00000486063.5:n.1098-15T>C
NM_000500.7:c.1119-15T>C NP_000491.4:n.1119-15T>C
NM_001128590.3:c.1029-15T>C NP_001122062.3:n.1029-15T>C
XM_011514314.1:c.714-15T>C XP_011512616.1:n.714-15T>C
NM_000500.9:c.1119-15T>C MANE Select NP_000491.4:n.1119-15T>C
NM_001368143.1:c.714-15T>C NP_001355072.1:n.714-15T>C
NM_001368144.1:c.714-15T>C NP_001355073.1:n.714-15T>C
NM_001128590.4:c.1029-15T>C NP_001122062.3:n.1029-15T>C
NM_001368143.2:c.714-15T>C NP_001355072.1:n.714-15T>C
NM_001368144.2:c.714-15T>C NP_001355073.1:n.714-15T>C