Canonical Allele Identifier: CA363504306

Gene: CYP21A2

Linked Data

• MyVariant Identifiers: chr6:g.32007417T>A (hg19) ; chr6:g.32039640T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039640T>A , CM000668.2:g.32039640T>A	GRCh38
NC_000006.11:g.32007417T>A , CM000668.1:g.32007417T>A	GRCh37
NC_000006.10:g.32115396T>A	NCBI36
NG_007941.2:g.6333T>A
NG_008337.2:g.74735A>T
NG_007941.3:g.6336T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.644T>A MANE Select	ENSP00000496625.1:p.Phe215Tyr
ENST00000418967.6:c.644T>A	ENSP00000408860.2:p.Phe215Tyr
ENST00000435122.3:c.554T>A	ENSP00000415043.2:p.Phe185Tyr
ENST00000462278.1:n.232T>A
ENST00000464325.5:n.565T>A
ENST00000466779.5:c.*336T>A	ENSP00000417321.1:n.*336T>A
ENST00000466879.5:n.695T>A
ENST00000469053.5:c.*336T>A	ENSP00000418104.1:n.*336T>A
ENST00000479074.5:n.702T>A
ENST00000479730.5:n.760T>A
ENST00000483041.5:n.813T>A
ENST00000486063.5:n.824T>A
NM_000500.7:c.644T>A	NP_000491.4:p.Phe215Tyr
NM_001128590.3:c.554T>A	NP_001122062.3:p.Phe185Tyr
XM_011514314.1:c.239T>A	XP_011512616.1:p.Phe80Tyr
NM_000500.9:c.644T>A MANE Select	NP_000491.4:p.Phe215Tyr
NM_001368143.1:c.239T>A	NP_001355072.1:p.Phe80Tyr
NM_001368144.1:c.239T>A	NP_001355073.1:p.Phe80Tyr
NM_001128590.4:c.554T>A	NP_001122062.3:p.Phe185Tyr
NM_001368143.2:c.239T>A	NP_001355072.1:p.Phe80Tyr
NM_001368144.2:c.239T>A	NP_001355073.1:p.Phe80Tyr