Canonical Allele Identifier: CA1619396954

Gene: CYP21A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32039426T= , CM000668.2:g.32039426T=	GRCh38
NC_000006.11:g.32007203T= , CM000668.1:g.32007203T=	GRCh37
NC_000006.10:g.32115182T=	NCBI36
NG_007941.2:g.6119T=
NG_008337.2:g.74949A=
NG_007941.3:g.6122T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000644719.2:c.518T= MANE Select	ENSP00000496625.1:p.Ile173=
ENST00000418967.6:c.518T=	ENSP00000408860.2:p.Ile173=
ENST00000435122.3:c.428T=	ENSP00000415043.2:p.Ile143=
ENST00000462278.1:n.106T=
ENST00000464325.5:n.439T=
ENST00000466779.5:c.*210T=	ENSP00000417321.1:n.*210T=
ENST00000466879.5:n.569T=
ENST00000469053.5:c.*210T=	ENSP00000418104.1:n.*210T=
ENST00000471671.4:c.518T=	ENSP00000418561.1:p.Ile173=
ENST00000478281.5:c.551T=	ENSP00000419572.1:p.Ile184=
ENST00000479074.5:n.576T=
ENST00000479730.5:n.673T=
ENST00000483041.5:n.687T=
ENST00000486063.5:n.698T=
ENST00000488465.1:n.526T=
NM_000500.7:c.518T=	NP_000491.4:p.Ile173=
NM_001128590.3:c.428T=	NP_001122062.3:p.Ile143=
XM_011514314.1:c.113T=	XP_011512616.1:p.Ile38=
NM_000500.9:c.518T= MANE Select	NP_000491.4:p.Ile173=
NM_001368143.1:c.113T=	NP_001355072.1:p.Ile38=
NM_001368144.1:c.113T=	NP_001355073.1:p.Ile38=
NM_001128590.4:c.428T=	NP_001122062.3:p.Ile143=
NM_001368143.2:c.113T=	NP_001355072.1:p.Ile38=
NM_001368144.2:c.113T=	NP_001355073.1:p.Ile38=