Canonical Allele Identifier: CA347828905
Community Standard Title: NM_001298.3(CNGA3):c.87A>T (p.Glu29Asp)
Gene: CNGA3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.98370062A>T , CM000664.2:g.98370062A>T GRCh38
NC_000002.11:g.98986525A>T , CM000664.1:g.98986525A>T GRCh37
NC_000002.10:g.98352957A>T NCBI36
NG_009097.1:g.28908A>T

Transcript Alleles

HGVS Amino-acid Change
NM_001298.3:c.87A>T MANE Select NP_001289.1:p.Glu29Asp
ENST00000272602.7:c.87A>T MANE Select ENSP00000272602.2:p.Glu29Asp
NM_001079878.1:c.87A>T NP_001073347.1:p.Glu29Asp
NM_001079878.2:c.87A>T NP_001073347.1:p.Glu29Asp
NM_001298.2:c.87A>T NP_001289.1:p.Glu29Asp
ENST00000272602.6:c.87A>T ENSP00000272602.2:p.Glu29Asp
ENST00000393504.5:c.87A>T ENSP00000377140.1:p.Glu29Asp
ENST00000436404.6:c.87A>T ENSP00000410070.2:p.Glu29Asp
XM_006712243.2:c.87A>T XP_006712306.1:p.Glu29Asp
XM_011510554.1:c.87A>T XP_011508856.1:p.Glu29Asp
XM_011510554.2:c.87A>T XP_011508856.1:p.Glu29Asp