Canonical Allele Identifier: CA1273419701

Gene: CNGA3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.98395961T= , CM000664.2:g.98395961T=	GRCh38
NC_000002.11:g.99012424T= , CM000664.1:g.99012424T=	GRCh37
NC_000002.10:g.98378856T=	NCBI36
NG_009097.1:g.54807T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272602.7:c.791T= MANE Select	ENSP00000272602.2:p.Leu264=
ENST00000272602.6:c.791T=	ENSP00000272602.2:p.Leu264=
ENST00000393504.5:c.791T=	ENSP00000377140.1:p.Leu264=
ENST00000409937.1:c.803T=	ENSP00000386761.1:p.Leu268=
ENST00000436404.6:c.737T=	ENSP00000410070.2:p.Leu246=
NM_001079878.1:c.737T=	NP_001073347.1:p.Leu246=
NM_001298.2:c.791T=	NP_001289.1:p.Leu264=
XM_006712243.2:c.902T=	XP_006712306.1:p.Leu301=
XM_011510554.1:c.956T=	XP_011508856.1:p.Leu319=
XM_011510554.2:c.956T=	XP_011508856.1:p.Leu319=
NM_001079878.2:c.737T=	NP_001073347.1:p.Leu246=
NM_001298.3:c.791T= MANE Select	NP_001289.1:p.Leu264=