Canonical Allele Identifier: CA347833761

Gene: CNGA3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.98396707G>C , CM000664.2:g.98396707G>C	GRCh38
NC_000002.11:g.99013170G>C , CM000664.1:g.99013170G>C	GRCh37
NC_000002.10:g.98379602G>C	NCBI36
NG_009097.1:g.55553G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272602.7:c.1537G>C MANE Select	ENSP00000272602.2:p.Gly513Arg
ENST00000272602.6:c.1537G>C	ENSP00000272602.2:p.Gly513Arg
ENST00000393504.5:c.1537G>C	ENSP00000377140.1:p.Gly513Arg
ENST00000409937.1:c.1549G>C	ENSP00000386761.1:p.Gly517Arg
ENST00000436404.6:c.1483G>C	ENSP00000410070.2:p.Gly495Arg
NM_001079878.1:c.1483G>C	NP_001073347.1:p.Gly495Arg
NM_001298.2:c.1537G>C	NP_001289.1:p.Gly513Arg
XM_006712243.2:c.1648G>C	XP_006712306.1:p.Gly550Arg
XM_011510554.1:c.1702G>C	XP_011508856.1:p.Gly568Arg
XM_011510554.2:c.1702G>C	XP_011508856.1:p.Gly568Arg
NM_001079878.2:c.1483G>C	NP_001073347.1:p.Gly495Arg
NM_001298.3:c.1537G>C MANE Select	NP_001289.1:p.Gly513Arg