Canonical Allele Identifier: CA3732543

Gene: CYP21A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040063C>T , CM000668.2:g.32040063C>T	GRCh38
NC_000006.11:g.32007840C>T , CM000668.1:g.32007840C>T	GRCh37
NC_000006.10:g.32115819C>T	NCBI36
NG_007941.2:g.6756C>T
NG_008337.2:g.74312G>A
NG_007941.3:g.6759C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000500.9:c.797C>T MANE Select	NP_000491.4:p.Ala266Val
ENST00000644719.2:c.797C>T MANE Select	ENSP00000496625.1:p.Ala266Val
NM_000500.7:c.797C>T	NP_000491.4:p.Ala266Val
NM_001128590.3:c.707C>T	NP_001122062.3:p.Ala236Val
NM_001128590.4:c.707C>T	NP_001122062.3:p.Ala236Val
NM_001368143.1:c.392C>T	NP_001355072.1:p.Ala131Val
NM_001368143.2:c.392C>T	NP_001355072.1:p.Ala131Val
NM_001368144.1:c.392C>T	NP_001355073.1:p.Ala131Val
NM_001368144.2:c.392C>T	NP_001355073.1:p.Ala131Val
ENST00000418967.6:c.797C>T	ENSP00000408860.2:p.Ala266Val
ENST00000435122.3:c.707C>T	ENSP00000415043.2:p.Ala236Val
ENST00000479074.5:n.855C>T
ENST00000479730.5:n.913C>T
ENST00000483041.5:n.966C>T
ENST00000486063.5:n.918+228C>T
XM_011514314.1:c.392C>T	XP_011512616.1:p.Ala131Val