Canonical Allele Identifier: CA1793927

Gene: CNGA3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.98396137G>C , CM000664.2:g.98396137G>C	GRCh38
NC_000002.11:g.99012600G>C , CM000664.1:g.99012600G>C	GRCh37
NC_000002.10:g.98379032G>C	NCBI36
NG_009097.1:g.54983G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001298.3:c.967G>C MANE Select	NP_001289.1:p.Ala323Pro
ENST00000272602.7:c.967G>C MANE Select	ENSP00000272602.2:p.Ala323Pro
NM_001079878.1:c.913G>C	NP_001073347.1:p.Ala305Pro
NM_001079878.2:c.913G>C	NP_001073347.1:p.Ala305Pro
NM_001298.2:c.967G>C	NP_001289.1:p.Ala323Pro
ENST00000272602.6:c.967G>C	ENSP00000272602.2:p.Ala323Pro
ENST00000393504.5:c.967G>C	ENSP00000377140.1:p.Ala323Pro
ENST00000409937.1:c.979G>C	ENSP00000386761.1:p.Ala327Pro
ENST00000436404.6:c.913G>C	ENSP00000410070.2:p.Ala305Pro
XM_006712243.2:c.1078G>C	XP_006712306.1:p.Ala360Pro
XM_011510554.1:c.1132G>C	XP_011508856.1:p.Ala378Pro
XM_011510554.2:c.1132G>C	XP_011508856.1:p.Ala378Pro