Canonical Allele Identifier: CA363507519

Gene: CYP21A2

Linked Data

• MyVariant Identifiers: chr6:g.32007966T>A (hg19) ; chr6:g.32040189T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040189T>A , CM000668.2:g.32040189T>A	GRCh38
NC_000006.11:g.32007966T>A , CM000668.1:g.32007966T>A	GRCh37
NC_000006.10:g.32115945T>A	NCBI36
NG_007941.2:g.6882T>A
NG_008337.2:g.74186A>T
NG_007941.3:g.6885T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000644719.2:c.923T>A MANE Select	ENSP00000496625.1:p.Leu308Ter
ENST00000418967.6:c.923T>A	ENSP00000408860.2:p.Leu308Ter
ENST00000435122.3:c.833T>A	ENSP00000415043.2:p.Leu278Ter
ENST00000479074.5:n.981T>A
ENST00000479730.5:n.1039T>A
ENST00000483041.5:n.1092T>A
ENST00000486063.5:n.919-217T>A
NM_000500.7:c.923T>A	NP_000491.4:p.Leu308Ter
NM_001128590.3:c.833T>A	NP_001122062.3:p.Leu278Ter
XM_011514314.1:c.518T>A	XP_011512616.1:p.Leu173Ter
NM_000500.9:c.923T>A MANE Select	NP_000491.4:p.Leu308Ter
NM_001368143.1:c.518T>A	NP_001355072.1:p.Leu173Ter
NM_001368144.1:c.518T>A	NP_001355073.1:p.Leu173Ter
NM_001128590.4:c.833T>A	NP_001122062.3:p.Leu278Ter
NM_001368143.2:c.518T>A	NP_001355072.1:p.Leu173Ter
NM_001368144.2:c.518T>A	NP_001355073.1:p.Leu173Ter