Canonical Allele Identifier: CA2678088486
Gene: CYP21A2 HGNC NCBI

Linked Data

gnomAD v4: 6-32038887-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32038887C>A , CM000668.2:g.32038887C>A GRCh38
NC_000006.11:g.32006664C>A , CM000668.1:g.32006664C>A GRCh37
NC_000006.10:g.32114643C>A NCBI36
NG_007941.2:g.5580C>A
NG_007941.3:g.5583C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000644719.2:c.292+76C>A MANE Select ENSP00000496625.1:n.292+76C>A
ENST00000418967.6:c.292+76C>A ENSP00000408860.2:n.292+76C>A
ENST00000435122.3:c.203-207C>A ENSP00000415043.2:n.203-207C>A
ENST00000464325.5:n.229+76C>A
ENST00000466779.5:c.292+76C>A ENSP00000417321.1:n.292+76C>A
ENST00000466879.5:n.137C>A
ENST00000469053.5:c.203-188C>A ENSP00000418104.1:n.203-188C>A
ENST00000471671.4:c.292+76C>A ENSP00000418561.1:n.292+76C>A
ENST00000478281.5:c.292+76C>A ENSP00000419572.1:n.292+76C>A
ENST00000479074.5:n.350+76C>A
ENST00000479730.5:n.447+76C>A
ENST00000480027.1:n.421C>A
ENST00000483041.5:n.442+76C>A
ENST00000486063.5:n.472+76C>A
ENST00000488465.1:n.300+76C>A
NM_000500.7:c.292+76C>A NP_000491.4:n.292+76C>A
NM_001128590.3:c.203-207C>A NP_001122062.3:n.203-207C>A
XM_011514314.1:c.-133+76C>A XP_011512616.1:n.-133+76C>A
NM_000500.9:c.292+76C>A MANE Select NP_000491.4:n.292+76C>A
NM_001368143.1:c.-133+76C>A NP_001355072.1:n.-133+76C>A
NM_001368144.1:c.-132-188C>A NP_001355073.1:n.-132-188C>A
NM_001128590.4:c.203-207C>A NP_001122062.3:n.203-207C>A
NM_001368143.2:c.-133+76C>A NP_001355072.1:n.-133+76C>A
NM_001368144.2:c.-132-188C>A NP_001355073.1:n.-132-188C>A