Canonical Allele Identifier: CA347831626

Gene: CNGA3

Linked Data

• MyVariant Identifiers: chr2:g.99006223T>A (hg19) ; chr2:g.98389760T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.98389760T>A , CM000664.2:g.98389760T>A	GRCh38
NC_000002.11:g.99006223T>A , CM000664.1:g.99006223T>A	GRCh37
NC_000002.10:g.98372655T>A	NCBI36
NG_009097.1:g.48606T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000272602.7:c.552T>A MANE Select	ENSP00000272602.2:p.Tyr184Ter
ENST00000272602.6:c.552T>A	ENSP00000272602.2:p.Tyr184Ter
ENST00000393503.2:n.557T>A
ENST00000393504.5:c.552T>A	ENSP00000377140.1:p.Tyr184Ter
ENST00000409937.1:c.564T>A	ENSP00000386761.1:p.Tyr188Ter
ENST00000436404.6:c.498T>A	ENSP00000410070.2:p.Tyr166Ter
NM_001079878.1:c.498T>A	NP_001073347.1:p.Tyr166Ter
NM_001298.2:c.552T>A	NP_001289.1:p.Tyr184Ter
XM_006712243.2:c.663T>A	XP_006712306.1:p.Tyr221Ter
XM_011510554.1:c.717T>A	XP_011508856.1:p.Tyr239Ter
XM_011510554.2:c.717T>A	XP_011508856.1:p.Tyr239Ter
NM_001079878.2:c.498T>A	NP_001073347.1:p.Tyr166Ter
NM_001298.3:c.552T>A MANE Select	NP_001289.1:p.Tyr184Ter