Canonical Allele Identifier: CA347832101

Gene: CNGA3

Linked Data

• MyVariant Identifiers: chr2:g.99012396T>G (hg19) ; chr2:g.98395933T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.98395933T>G , CM000664.2:g.98395933T>G	GRCh38
NC_000002.11:g.99012396T>G , CM000664.1:g.99012396T>G	GRCh37
NC_000002.10:g.98378828T>G	NCBI36
NG_009097.1:g.54779T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272602.7:c.763T>G MANE Select	ENSP00000272602.2:p.Ser255Ala
ENST00000272602.6:c.763T>G	ENSP00000272602.2:p.Ser255Ala
ENST00000393504.5:c.763T>G	ENSP00000377140.1:p.Ser255Ala
ENST00000409937.1:c.775T>G	ENSP00000386761.1:p.Ser259Ala
ENST00000436404.6:c.709T>G	ENSP00000410070.2:p.Ser237Ala
NM_001079878.1:c.709T>G	NP_001073347.1:p.Ser237Ala
NM_001298.2:c.763T>G	NP_001289.1:p.Ser255Ala
XM_006712243.2:c.874T>G	XP_006712306.1:p.Ser292Ala
XM_011510554.1:c.928T>G	XP_011508856.1:p.Ser310Ala
XM_011510554.2:c.928T>G	XP_011508856.1:p.Ser310Ala
NM_001079878.2:c.709T>G	NP_001073347.1:p.Ser237Ala
NM_001298.3:c.763T>G MANE Select	NP_001289.1:p.Ser255Ala