Canonical Allele Identifier: CA449818810

Gene: CYP21A2

Linked Data

• gnomAD v4: 6-32040528-G-A
• MyVariant Identifiers: chr6:g.32008305G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040528G>A , CM000668.2:g.32040528G>A	GRCh38
NC_000006.11:g.32008305G>A , CM000668.1:g.32008305G>A	GRCh37
NC_000006.10:g.32116284G>A	NCBI36
NG_007941.2:g.7221G>A
NG_008337.2:g.73847C>T
NG_007941.3:g.7224G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000644719.2:c.1062G>A MANE Select	ENSP00000496625.1:p.Leu354=
ENST00000418967.6:c.1062G>A	ENSP00000408860.2:p.Leu354=
ENST00000435122.3:c.972G>A	ENSP00000415043.2:p.Leu324=
ENST00000479074.5:n.1120G>A
ENST00000479730.5:n.1178G>A
ENST00000483041.5:n.1231G>A
ENST00000486063.5:n.1041G>A
NM_000500.7:c.1062G>A	NP_000491.4:p.Leu354=
NM_001128590.3:c.972G>A	NP_001122062.3:p.Leu324=
XM_011514314.1:c.657G>A	XP_011512616.1:p.Leu219=
NM_000500.9:c.1062G>A MANE Select	NP_000491.4:p.Leu354=
NM_001368143.1:c.657G>A	NP_001355072.1:p.Leu219=
NM_001368144.1:c.657G>A	NP_001355073.1:p.Leu219=
NM_001128590.4:c.972G>A	NP_001122062.3:p.Leu324=
NM_001368143.2:c.657G>A	NP_001355072.1:p.Leu219=
NM_001368144.2:c.657G>A	NP_001355073.1:p.Leu219=