Canonical Allele Identifier: CA1273420057

Gene: CNGA3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.98396765A= , CM000664.2:g.98396765A=	GRCh38
NC_000002.11:g.99013228A= , CM000664.1:g.99013228A=	GRCh37
NC_000002.10:g.98379660A=	NCBI36
NG_009097.1:g.55611A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000272602.7:c.1595A= MANE Select	ENSP00000272602.2:p.Asp532=
ENST00000272602.6:c.1595A=	ENSP00000272602.2:p.Asp532=
ENST00000393504.5:c.1595A=	ENSP00000377140.1:p.Asp532=
ENST00000409937.1:c.1607A=	ENSP00000386761.1:p.Asp536=
ENST00000436404.6:c.1541A=	ENSP00000410070.2:p.Asp514=
NM_001079878.1:c.1541A=	NP_001073347.1:p.Asp514=
NM_001298.2:c.1595A=	NP_001289.1:p.Asp532=
XM_006712243.2:c.1706A=	XP_006712306.1:p.Asp569=
XM_011510554.1:c.1760A=	XP_011508856.1:p.Asp587=
XM_011510554.2:c.1760A=	XP_011508856.1:p.Asp587=
NM_001079878.2:c.1541A=	NP_001073347.1:p.Asp514=
NM_001298.3:c.1595A= MANE Select	NP_001289.1:p.Asp532=