Canonical Allele Identifier: CA449729763

Gene: CYP21A2

Linked Data

• gnomAD v4: 6-32040133-C-A
• MyVariant Identifiers: chr6:g.32007910C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040133C>A , CM000668.2:g.32040133C>A	GRCh38
NC_000006.11:g.32007910C>A , CM000668.1:g.32007910C>A	GRCh37
NC_000006.10:g.32115889C>A	NCBI36
NG_007941.2:g.6826C>A
NG_008337.2:g.74242G>T
NG_007941.3:g.6829C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.867C>A MANE Select	ENSP00000496625.1:p.Leu289=
ENST00000418967.6:c.867C>A	ENSP00000408860.2:p.Leu289=
ENST00000435122.3:c.777C>A	ENSP00000415043.2:p.Leu259=
ENST00000479074.5:n.925C>A
ENST00000479730.5:n.983C>A
ENST00000483041.5:n.1036C>A
ENST00000486063.5:n.919-273C>A
NM_000500.7:c.867C>A	NP_000491.4:p.Leu289=
NM_001128590.3:c.777C>A	NP_001122062.3:p.Leu259=
XM_011514314.1:c.462C>A	XP_011512616.1:p.Leu154=
NM_000500.9:c.867C>A MANE Select	NP_000491.4:p.Leu289=
NM_001368143.1:c.462C>A	NP_001355072.1:p.Leu154=
NM_001368144.1:c.462C>A	NP_001355073.1:p.Leu154=
NM_001128590.4:c.777C>A	NP_001122062.3:p.Leu259=
NM_001368143.2:c.462C>A	NP_001355072.1:p.Leu154=
NM_001368144.2:c.462C>A	NP_001355073.1:p.Leu154=