Canonical Allele Identifier: CA1273416670

Gene: CNGA3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.98389696C= , CM000664.2:g.98389696C=	GRCh38
NC_000002.11:g.99006159C= , CM000664.1:g.99006159C=	GRCh37
NC_000002.10:g.98372591C=	NCBI36
NG_009097.1:g.48542C=

Transcript Alleles

HGVS	Amino-acid Change
NM_001298.3:c.488C= MANE Select	NP_001289.1:p.Pro163=
ENST00000272602.7:c.488C= MANE Select	ENSP00000272602.2:p.Pro163=
NM_001079878.1:c.434C=	NP_001073347.1:p.Pro145=
NM_001079878.2:c.434C=	NP_001073347.1:p.Pro145=
NM_001298.2:c.488C=	NP_001289.1:p.Pro163=
ENST00000272602.6:c.488C=	ENSP00000272602.2:p.Pro163=
ENST00000393503.2:n.493C=
ENST00000393504.5:c.488C=	ENSP00000377140.1:p.Pro163=
ENST00000409937.1:c.500C=	ENSP00000386761.1:p.Pro167=
ENST00000436404.6:c.434C=	ENSP00000410070.2:p.Pro145=
XM_006712243.2:c.599C=	XP_006712306.1:p.Pro200=
XM_011510554.1:c.653C=	XP_011508856.1:p.Pro218=
XM_011510554.2:c.653C=	XP_011508856.1:p.Pro218=