Canonical Allele Identifier: CA363511971

Gene: CYP21A2

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040931T>A , CM000668.2:g.32040931T>A	GRCh38
NC_000006.11:g.32008708T>A , CM000668.1:g.32008708T>A	GRCh37
NC_000006.10:g.32116687T>A	NCBI36
NG_007941.2:g.7624T>A
NG_008337.2:g.73444A>T
NG_007941.3:g.7627T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.1285T>A MANE Select	ENSP00000496625.1:p.Cys429Ser
ENST00000418967.6:c.1285T>A	ENSP00000408860.2:p.Cys429Ser
ENST00000435122.3:c.1195T>A	ENSP00000415043.2:p.Cys399Ser
ENST00000479074.5:n.1426T>A
ENST00000479730.5:n.1401T>A
ENST00000483041.5:n.1454T>A
ENST00000486063.5:n.1264T>A
NM_000500.7:c.1285T>A	NP_000491.4:p.Cys429Ser
NM_001128590.3:c.1195T>A	NP_001122062.3:p.Cys399Ser
XM_011514314.1:c.880T>A	XP_011512616.1:p.Cys294Ser
NM_000500.9:c.1285T>A MANE Select	NP_000491.4:p.Cys429Ser
NM_001368143.1:c.880T>A	NP_001355072.1:p.Cys294Ser
NM_001368144.1:c.880T>A	NP_001355073.1:p.Cys294Ser
NM_001128590.4:c.1195T>A	NP_001122062.3:p.Cys399Ser
NM_001368143.2:c.880T>A	NP_001355072.1:p.Cys294Ser
NM_001368144.2:c.880T>A	NP_001355073.1:p.Cys294Ser