Canonical Allele Identifier: CA1794036

Gene: CNGA3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.98396727G>A , CM000664.2:g.98396727G>A	GRCh38
NC_000002.11:g.99013190G>A , CM000664.1:g.99013190G>A	GRCh37
NC_000002.10:g.98379622G>A	NCBI36
NG_009097.1:g.55573G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001298.3:c.1557G>A MANE Select	NP_001289.1:p.Met519Ile
ENST00000272602.7:c.1557G>A MANE Select	ENSP00000272602.2:p.Met519Ile
NM_001079878.1:c.1503G>A	NP_001073347.1:p.Met501Ile
NM_001079878.2:c.1503G>A	NP_001073347.1:p.Met501Ile
NM_001298.2:c.1557G>A	NP_001289.1:p.Met519Ile
ENST00000272602.6:c.1557G>A	ENSP00000272602.2:p.Met519Ile
ENST00000393504.5:c.1557G>A	ENSP00000377140.1:p.Met519Ile
ENST00000409937.1:c.1569G>A	ENSP00000386761.1:p.Met523Ile
ENST00000436404.6:c.1503G>A	ENSP00000410070.2:p.Met501Ile
XM_006712243.2:c.1668G>A	XP_006712306.1:p.Met556Ile
XM_011510554.1:c.1722G>A	XP_011508856.1:p.Met574Ile
XM_011510554.2:c.1722G>A	XP_011508856.1:p.Met574Ile