Canonical Allele Identifier: CA1273420051
Community Standard Title: NM_001298.3(CNGA3):c.1585G= (p.Val529=)
Gene: CNGA3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.98396755G= , CM000664.2:g.98396755G= GRCh38
NC_000002.11:g.99013218G= , CM000664.1:g.99013218G= GRCh37
NC_000002.10:g.98379650G= NCBI36
NG_009097.1:g.55601G=

Transcript Alleles

HGVS Amino-acid Change
NM_001298.3:c.1585G= MANE Select NP_001289.1:p.Val529=
ENST00000272602.7:c.1585G= MANE Select ENSP00000272602.2:p.Val529=
NM_001079878.1:c.1531G= NP_001073347.1:p.Val511=
NM_001079878.2:c.1531G= NP_001073347.1:p.Val511=
NM_001298.2:c.1585G= NP_001289.1:p.Val529=
ENST00000272602.6:c.1585G= ENSP00000272602.2:p.Val529=
ENST00000393504.5:c.1585G= ENSP00000377140.1:p.Val529=
ENST00000409937.1:c.1597G= ENSP00000386761.1:p.Val533=
ENST00000436404.6:c.1531G= ENSP00000410070.2:p.Val511=
XM_006712243.2:c.1696G= XP_006712306.1:p.Val566=
XM_011510554.1:c.1750G= XP_011508856.1:p.Val584=
XM_011510554.2:c.1750G= XP_011508856.1:p.Val584=