Canonical Allele Identifier: CA347831622

Gene: CNGA3

Linked Data

• MyVariant Identifiers: chr2:g.99006221T>G (hg19) ; chr2:g.98389758T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.98389758T>G , CM000664.2:g.98389758T>G	GRCh38
NC_000002.11:g.99006221T>G , CM000664.1:g.99006221T>G	GRCh37
NC_000002.10:g.98372653T>G	NCBI36
NG_009097.1:g.48604T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000272602.7:c.550T>G MANE Select	ENSP00000272602.2:p.Tyr184Asp
ENST00000272602.6:c.550T>G	ENSP00000272602.2:p.Tyr184Asp
ENST00000393503.2:n.555T>G
ENST00000393504.5:c.550T>G	ENSP00000377140.1:p.Tyr184Asp
ENST00000409937.1:c.562T>G	ENSP00000386761.1:p.Tyr188Asp
ENST00000436404.6:c.496T>G	ENSP00000410070.2:p.Tyr166Asp
NM_001079878.1:c.496T>G	NP_001073347.1:p.Tyr166Asp
NM_001298.2:c.550T>G	NP_001289.1:p.Tyr184Asp
XM_006712243.2:c.661T>G	XP_006712306.1:p.Tyr221Asp
XM_011510554.1:c.715T>G	XP_011508856.1:p.Tyr239Asp
XM_011510554.2:c.715T>G	XP_011508856.1:p.Tyr239Asp
NM_001079878.2:c.496T>G	NP_001073347.1:p.Tyr166Asp
NM_001298.3:c.550T>G MANE Select	NP_001289.1:p.Tyr184Asp