Canonical Allele Identifier: CA363511086

Gene: CYP21A2

Linked Data

• MyVariant Identifiers: chr6:g.32008301T>A (hg19) ; chr6:g.32040524T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040524T>A , CM000668.2:g.32040524T>A	GRCh38
NC_000006.11:g.32008301T>A , CM000668.1:g.32008301T>A	GRCh37
NC_000006.10:g.32116280T>A	NCBI36
NG_007941.2:g.7217T>A
NG_008337.2:g.73851A>T
NG_007941.3:g.7220T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.1058T>A MANE Select	ENSP00000496625.1:p.Val353Glu
ENST00000418967.6:c.1058T>A	ENSP00000408860.2:p.Val353Glu
ENST00000435122.3:c.968T>A	ENSP00000415043.2:p.Val323Glu
ENST00000479074.5:n.1116T>A
ENST00000479730.5:n.1174T>A
ENST00000483041.5:n.1227T>A
ENST00000486063.5:n.1037T>A
NM_000500.7:c.1058T>A	NP_000491.4:p.Val353Glu
NM_001128590.3:c.968T>A	NP_001122062.3:p.Val323Glu
XM_011514314.1:c.653T>A	XP_011512616.1:p.Val218Glu
NM_000500.9:c.1058T>A MANE Select	NP_000491.4:p.Val353Glu
NM_001368143.1:c.653T>A	NP_001355072.1:p.Val218Glu
NM_001368144.1:c.653T>A	NP_001355073.1:p.Val218Glu
NM_001128590.4:c.968T>A	NP_001122062.3:p.Val323Glu
NM_001368143.2:c.653T>A	NP_001355072.1:p.Val218Glu
NM_001368144.2:c.653T>A	NP_001355073.1:p.Val218Glu