Canonical Allele Identifier: CA347833883

Gene: CNGA3

Linked Data

• MyVariant Identifiers: chr2:g.99013229T>A (hg19) ; chr2:g.98396766T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.98396766T>A , CM000664.2:g.98396766T>A	GRCh38
NC_000002.11:g.99013229T>A , CM000664.1:g.99013229T>A	GRCh37
NC_000002.10:g.98379661T>A	NCBI36
NG_009097.1:g.55612T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000272602.7:c.1596T>A MANE Select	ENSP00000272602.2:p.Asp532Glu
ENST00000272602.6:c.1596T>A	ENSP00000272602.2:p.Asp532Glu
ENST00000393504.5:c.1596T>A	ENSP00000377140.1:p.Asp532Glu
ENST00000409937.1:c.1608T>A	ENSP00000386761.1:p.Asp536Glu
ENST00000436404.6:c.1542T>A	ENSP00000410070.2:p.Asp514Glu
NM_001079878.1:c.1542T>A	NP_001073347.1:p.Asp514Glu
NM_001298.2:c.1596T>A	NP_001289.1:p.Asp532Glu
XM_006712243.2:c.1707T>A	XP_006712306.1:p.Asp569Glu
XM_011510554.1:c.1761T>A	XP_011508856.1:p.Asp587Glu
XM_011510554.2:c.1761T>A	XP_011508856.1:p.Asp587Glu
NM_001079878.2:c.1542T>A	NP_001073347.1:p.Asp514Glu
NM_001298.3:c.1596T>A MANE Select	NP_001289.1:p.Asp532Glu