Canonical Allele Identifier: CA371456755
Gene: CNGB3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86739712A>C , CM000670.2:g.86739712A>C GRCh38
NC_000008.10:g.87751940A>C , CM000670.1:g.87751940A>C GRCh37
NC_000008.9:g.87821056A>C NCBI36
NG_016980.1:g.8964T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.154T>G MANE Select ENSP00000316605.5:p.Ser52Ala
ENST00000681746.1:c.154T>G ENSP00000505959.1:p.Ser52Ala
ENST00000320005.5:c.154T>G ENSP00000316605.5:p.Ser52Ala
ENST00000519777.1:n.136T>G
NM_019098.4:c.154T>G NP_061971.3:p.Ser52Ala
NM_019098.5:c.154T>G MANE Select NP_061971.3:p.Ser52Ala