Canonical Allele Identifier: CA2187637967

Gene: CYP11A1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.74339675A= , CM000677.2:g.74339675A=	GRCh38
NC_000015.9:g.74632016A= , CM000677.1:g.74632016A=	GRCh37
NC_000015.8:g.72419069A=	NCBI36
NG_007973.1:g.33067T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268053.11:c.1069T= MANE Select	ENSP00000268053.6:p.Leu357=
ENST00000268053.10:c.1069T=	ENSP00000268053.6:p.Leu357=
ENST00000358632.8:c.595T=	ENSP00000351455.4:p.Leu199=
ENST00000435365.5:c.1069T=	ENSP00000391081.1:p.Leu357=
ENST00000566674.5:c.595T=	ENSP00000456941.1:p.Leu199=
NM_000781.2:c.1069T=	NP_000772.2:p.Leu357=
NM_001099773.1:c.595T=	NP_001093243.1:p.Leu199=
NM_000781.3:c.1069T= MANE Select	NP_000772.2:p.Leu357=
NM_001099773.2:c.595T=	NP_001093243.1:p.Leu199=