Canonical Allele Identifier: CA427819828
Gene: CNGA3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.99013316G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.98396853G>T , CM000664.2:g.98396853G>T GRCh38
NC_000002.11:g.99013316G>T , CM000664.1:g.99013316G>T GRCh37
NC_000002.10:g.98379748G>T NCBI36
NG_009097.1:g.55699G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000272602.7:c.1683G>T MANE Select ENSP00000272602.2:p.Gly561=
ENST00000272602.6:c.1683G>T ENSP00000272602.2:p.Gly561=
ENST00000393504.5:c.1683G>T ENSP00000377140.1:p.Gly561=
ENST00000409937.1:c.1695G>T ENSP00000386761.1:p.Gly565=
ENST00000436404.6:c.1629G>T ENSP00000410070.2:p.Gly543=
NM_001079878.1:c.1629G>T NP_001073347.1:p.Gly543=
NM_001298.2:c.1683G>T NP_001289.1:p.Gly561=
XM_006712243.2:c.1794G>T XP_006712306.1:p.Gly598=
XM_011510554.1:c.1848G>T XP_011508856.1:p.Gly616=
XM_011510554.2:c.1848G>T XP_011508856.1:p.Gly616=
NM_001079878.2:c.1629G>T NP_001073347.1:p.Gly543=
NM_001298.3:c.1683G>T MANE Select NP_001289.1:p.Gly561=