Canonical Allele Identifier: CA371450080
Gene: CNGB3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86670971A>T , CM000670.2:g.86670971A>T GRCh38
NC_000008.10:g.87683199A>T , CM000670.1:g.87683199A>T GRCh37
NC_000008.9:g.87752315A>T NCBI36
NG_016980.1:g.77705T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.466T>A MANE Select ENSP00000316605.5:p.Ser156Thr
ENST00000680314.1:n.227T>A
ENST00000681746.1:c.466T>A ENSP00000505959.1:p.Ser156Thr
ENST00000320005.5:c.466T>A ENSP00000316605.5:p.Ser156Thr
NM_019098.4:c.466T>A NP_061971.3:p.Ser156Thr
XM_011517138.1:c.52T>A XP_011515440.1:p.Ser18Thr
XM_011517138.2:c.52T>A XP_011515440.1:p.Ser18Thr
NM_019098.5:c.466T>A MANE Select NP_061971.3:p.Ser156Thr