Canonical Allele Identifier: CA1273420100
Gene: CNGA3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.98396857C= , CM000664.2:g.98396857C= GRCh38
NC_000002.11:g.99013320C= , CM000664.1:g.99013320C= GRCh37
NC_000002.10:g.98379752C= NCBI36
NG_009097.1:g.55703C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000272602.7:c.1687C= MANE Select ENSP00000272602.2:p.Arg563=
ENST00000272602.6:c.1687C= ENSP00000272602.2:p.Arg563=
ENST00000393504.5:c.1687C= ENSP00000377140.1:p.Arg563=
ENST00000409937.1:c.1699C= ENSP00000386761.1:p.Arg567=
ENST00000436404.6:c.1633C= ENSP00000410070.2:p.Arg545=
NM_001079878.1:c.1633C= NP_001073347.1:p.Arg545=
NM_001298.2:c.1687C= NP_001289.1:p.Arg563=
XM_006712243.2:c.1798C= XP_006712306.1:p.Arg600=
XM_011510554.1:c.1852C= XP_011508856.1:p.Arg618=
XM_011510554.2:c.1852C= XP_011508856.1:p.Arg618=
NM_001079878.2:c.1633C= NP_001073347.1:p.Arg545=
NM_001298.3:c.1687C= MANE Select NP_001289.1:p.Arg563=