Canonical Allele Identifier: CA1273419734
Community Standard Title: NM_001298.3(CNGA3):c.872C= (p.Thr291=)
Gene: CNGA3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.98396042C= , CM000664.2:g.98396042C= GRCh38
NC_000002.11:g.99012505C= , CM000664.1:g.99012505C= GRCh37
NC_000002.10:g.98378937C= NCBI36
NG_009097.1:g.54888C=

Transcript Alleles

HGVS Amino-acid Change
NM_001298.3:c.872C= MANE Select NP_001289.1:p.Thr291=
ENST00000272602.7:c.872C= MANE Select ENSP00000272602.2:p.Thr291=
NM_001079878.1:c.818C= NP_001073347.1:p.Thr273=
NM_001079878.2:c.818C= NP_001073347.1:p.Thr273=
NM_001298.2:c.872C= NP_001289.1:p.Thr291=
ENST00000272602.6:c.872C= ENSP00000272602.2:p.Thr291=
ENST00000393504.5:c.872C= ENSP00000377140.1:p.Thr291=
ENST00000409937.1:c.884C= ENSP00000386761.1:p.Thr295=
ENST00000436404.6:c.818C= ENSP00000410070.2:p.Thr273=
XM_006712243.2:c.983C= XP_006712306.1:p.Thr328=
XM_011510554.1:c.1037C= XP_011508856.1:p.Thr346=
XM_011510554.2:c.1037C= XP_011508856.1:p.Thr346=