Canonical Allele Identifier: CA2751373502

Gene: CNGA3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.98389847C>G , CM000664.2:g.98389847C>G	GRCh38
NC_000002.11:g.99006310C>G , CM000664.1:g.99006310C>G	GRCh37
NC_000002.10:g.98372742C>G	NCBI36
NG_009097.1:g.48693C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272602.7:c.566+73C>G MANE Select	ENSP00000272602.2:n.566+73C>G
ENST00000272602.6:c.566+73C>G	ENSP00000272602.2:n.566+73C>G
ENST00000393504.5:c.566+73C>G	ENSP00000377140.1:n.566+73C>G
ENST00000409937.1:c.578+73C>G	ENSP00000386761.1:n.578+73C>G
ENST00000436404.6:c.512+73C>G	ENSP00000410070.2:n.512+73C>G
NM_001079878.1:c.512+73C>G	NP_001073347.1:n.512+73C>G
NM_001298.2:c.566+73C>G	NP_001289.1:n.566+73C>G
XM_006712243.2:c.677+73C>G	XP_006712306.1:n.677+73C>G
XM_011510554.1:c.731+73C>G	XP_011508856.1:n.731+73C>G
XM_011510554.2:c.731+73C>G	XP_011508856.1:n.731+73C>G
NM_001079878.2:c.512+73C>G	NP_001073347.1:n.512+73C>G
NM_001298.3:c.566+73C>G MANE Select	NP_001289.1:n.566+73C>G