Canonical Allele Identifier: CA363505774

Gene: CYP21A2

Linked Data

• MyVariant Identifiers: chr6:g.32007789T>A (hg19) ; chr6:g.32040012T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040012T>A , CM000668.2:g.32040012T>A	GRCh38
NC_000006.11:g.32007789T>A , CM000668.1:g.32007789T>A	GRCh37
NC_000006.10:g.32115768T>A	NCBI36
NG_007941.2:g.6705T>A
NG_008337.2:g.74363A>T
NG_007941.3:g.6708T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.746T>A MANE Select	ENSP00000496625.1:p.Leu249His
ENST00000418967.6:c.746T>A	ENSP00000408860.2:p.Leu249His
ENST00000435122.3:c.656T>A	ENSP00000415043.2:p.Leu219His
ENST00000479074.5:n.804T>A
ENST00000479730.5:n.862T>A
ENST00000483041.5:n.915T>A
ENST00000486063.5:n.918+177T>A
NM_000500.7:c.746T>A	NP_000491.4:p.Leu249His
NM_001128590.3:c.656T>A	NP_001122062.3:p.Leu219His
XM_011514314.1:c.341T>A	XP_011512616.1:p.Leu114His
NM_000500.9:c.746T>A MANE Select	NP_000491.4:p.Leu249His
NM_001368143.1:c.341T>A	NP_001355072.1:p.Leu114His
NM_001368144.1:c.341T>A	NP_001355073.1:p.Leu114His
NM_001128590.4:c.656T>A	NP_001122062.3:p.Leu219His
NM_001368143.2:c.341T>A	NP_001355072.1:p.Leu114His
NM_001368144.2:c.341T>A	NP_001355073.1:p.Leu114His