Canonical Allele Identifier: CA1793594

Gene: CNGA3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.98377735C>T , CM000664.2:g.98377735C>T	GRCh38
NC_000002.11:g.98994198C>T , CM000664.1:g.98994198C>T	GRCh37
NC_000002.10:g.98360630C>T	NCBI36
NG_009097.1:g.36581C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272602.7:c.150C>T MANE Select	ENSP00000272602.2:p.Ile50=
ENST00000272602.6:c.150C>T	ENSP00000272602.2:p.Ile50=
ENST00000393504.5:c.150C>T	ENSP00000377140.1:p.Ile50=
ENST00000409937.1:c.-4C>T	ENSP00000386761.1:n.-4C>T
ENST00000436404.6:c.150C>T	ENSP00000410070.2:p.Ile50=
NM_001079878.1:c.150C>T	NP_001073347.1:p.Ile50=
NM_001298.2:c.150C>T	NP_001289.1:p.Ile50=
XM_006712243.2:c.150C>T	XP_006712306.1:p.Ile50=
XM_011510554.1:c.150C>T	XP_011508856.1:p.Ile50=
XM_011510554.2:c.150C>T	XP_011508856.1:p.Ile50=
NM_001079878.2:c.150C>T	NP_001073347.1:p.Ile50=
NM_001298.3:c.150C>T MANE Select	NP_001289.1:p.Ile50=