Canonical Allele Identifier: CA371450047
Gene: CNGB3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86670954G>T , CM000670.2:g.86670954G>T GRCh38
NC_000008.10:g.87683182G>T , CM000670.1:g.87683182G>T GRCh37
NC_000008.9:g.87752298G>T NCBI36
NG_016980.1:g.77722C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.483C>A MANE Select ENSP00000316605.5:p.Ser161Arg
ENST00000680314.1:n.244C>A
ENST00000681746.1:c.483C>A ENSP00000505959.1:p.Ser161Arg
ENST00000320005.5:c.483C>A ENSP00000316605.5:p.Ser161Arg
NM_019098.4:c.483C>A NP_061971.3:p.Ser161Arg
XM_011517138.1:c.69C>A XP_011515440.1:p.Ser23Arg
XM_011517138.2:c.69C>A XP_011515440.1:p.Ser23Arg
NM_019098.5:c.483C>A MANE Select NP_061971.3:p.Ser161Arg