Canonical Allele Identifier: CA363506898

Gene: CYP21A2

Linked Data

• ClinVar Variation Id: 2136374
• ClinVar RCV Id: RCV003037144
• MyVariant Identifiers: chr6:g.32007890C>A (hg19) ; chr6:g.32040113C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040113C>A , CM000668.2:g.32040113C>A	GRCh38
NC_000006.11:g.32007890C>A , CM000668.1:g.32007890C>A	GRCh37
NC_000006.10:g.32115869C>A	NCBI36
NG_007941.2:g.6806C>A
NG_008337.2:g.74262G>T
NG_007941.3:g.6809C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.847C>A MANE Select	ENSP00000496625.1:p.His283Asn
ENST00000418967.6:c.847C>A	ENSP00000408860.2:p.His283Asn
ENST00000435122.3:c.757C>A	ENSP00000415043.2:p.His253Asn
ENST00000479074.5:n.905C>A
ENST00000479730.5:n.963C>A
ENST00000483041.5:n.1016C>A
ENST00000486063.5:n.918+278C>A
NM_000500.7:c.847C>A	NP_000491.4:p.His283Asn
NM_001128590.3:c.757C>A	NP_001122062.3:p.His253Asn
XM_011514314.1:c.442C>A	XP_011512616.1:p.His148Asn
NM_000500.9:c.847C>A MANE Select	NP_000491.4:p.His283Asn
NM_001368143.1:c.442C>A	NP_001355072.1:p.His148Asn
NM_001368144.1:c.442C>A	NP_001355073.1:p.His148Asn
NM_001128590.4:c.757C>A	NP_001122062.3:p.His253Asn
NM_001368143.2:c.442C>A	NP_001355072.1:p.His148Asn
NM_001368144.2:c.442C>A	NP_001355073.1:p.His148Asn