Canonical Allele Identifier: CA363507040

Gene: CYP21A2

Linked Data

• dbSNP Id: rs1776185082
• MyVariant Identifiers: chr6:g.32007907C>A (hg19) ; chr6:g.32040130C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040130C>A , CM000668.2:g.32040130C>A	GRCh38
NC_000006.11:g.32007907C>A , CM000668.1:g.32007907C>A	GRCh37
NC_000006.10:g.32115886C>A	NCBI36
NG_007941.2:g.6823C>A
NG_008337.2:g.74245G>T
NG_007941.3:g.6826C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.864C>A MANE Select	ENSP00000496625.1:p.Asp288Glu
ENST00000418967.6:c.864C>A	ENSP00000408860.2:p.Asp288Glu
ENST00000435122.3:c.774C>A	ENSP00000415043.2:p.Asp258Glu
ENST00000479074.5:n.922C>A
ENST00000479730.5:n.980C>A
ENST00000483041.5:n.1033C>A
ENST00000486063.5:n.919-276C>A
NM_000500.7:c.864C>A	NP_000491.4:p.Asp288Glu
NM_001128590.3:c.774C>A	NP_001122062.3:p.Asp258Glu
XM_011514314.1:c.459C>A	XP_011512616.1:p.Asp153Glu
NM_000500.9:c.864C>A MANE Select	NP_000491.4:p.Asp288Glu
NM_001368143.1:c.459C>A	NP_001355072.1:p.Asp153Glu
NM_001368144.1:c.459C>A	NP_001355073.1:p.Asp153Glu
NM_001128590.4:c.774C>A	NP_001122062.3:p.Asp258Glu
NM_001368143.2:c.459C>A	NP_001355072.1:p.Asp153Glu
NM_001368144.2:c.459C>A	NP_001355073.1:p.Asp153Glu