Canonical Allele Identifier: CA363510597

Gene: CYP21A2

Linked Data

• COSMIC: COSM360983
• MyVariant Identifiers: chr6:g.32008211A>T (hg19) ; chr6:g.32040434A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040434A>T , CM000668.2:g.32040434A>T	GRCh38
NC_000006.11:g.32008211A>T , CM000668.1:g.32008211A>T	GRCh37
NC_000006.10:g.32116190A>T	NCBI36
NG_007941.2:g.7127A>T
NG_008337.2:g.73941T>A
NG_007941.3:g.7130A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000644719.2:c.968A>T MANE Select	ENSP00000496625.1:p.Asp323Val
ENST00000418967.6:c.968A>T	ENSP00000408860.2:p.Asp323Val
ENST00000435122.3:c.878A>T	ENSP00000415043.2:p.Asp293Val
ENST00000479074.5:n.1026A>T
ENST00000479730.5:n.1084A>T
ENST00000483041.5:n.1137A>T
ENST00000486063.5:n.947A>T
NM_000500.7:c.968A>T	NP_000491.4:p.Asp323Val
NM_001128590.3:c.878A>T	NP_001122062.3:p.Asp293Val
XM_011514314.1:c.563A>T	XP_011512616.1:p.Asp188Val
NM_000500.9:c.968A>T MANE Select	NP_000491.4:p.Asp323Val
NM_001368143.1:c.563A>T	NP_001355072.1:p.Asp188Val
NM_001368144.1:c.563A>T	NP_001355073.1:p.Asp188Val
NM_001128590.4:c.878A>T	NP_001122062.3:p.Asp293Val
NM_001368143.2:c.563A>T	NP_001355072.1:p.Asp188Val
NM_001368144.2:c.563A>T	NP_001355073.1:p.Asp188Val