Canonical Allele Identifier: CA371449993
Gene: CNGB3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86668159G>C , CM000670.2:g.86668159G>C GRCh38
NC_000008.10:g.87680387G>C , CM000670.1:g.87680387G>C GRCh37
NC_000008.9:g.87749503G>C NCBI36
NG_016980.1:g.80517C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.503C>G MANE Select ENSP00000316605.5:p.Thr168Arg
ENST00000681746.1:c.503C>G ENSP00000505959.1:p.Thr168Arg
ENST00000320005.5:c.503C>G ENSP00000316605.5:p.Thr168Arg
NM_019098.4:c.503C>G NP_061971.3:p.Thr168Arg
XM_011517138.1:c.89C>G XP_011515440.1:p.Thr30Arg
XM_011517138.2:c.89C>G XP_011515440.1:p.Thr30Arg
NM_019098.5:c.503C>G MANE Select NP_061971.3:p.Thr168Arg