Canonical Allele Identifier: CA371449705
Gene: CNGB3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86668025A>C , CM000670.2:g.86668025A>C GRCh38
NC_000008.10:g.87680253A>C , CM000670.1:g.87680253A>C GRCh37
NC_000008.9:g.87749369A>C NCBI36
NG_016980.1:g.80651T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000320005.6:c.637T>G MANE Select ENSP00000316605.5:p.Tyr213Asp
ENST00000681746.1:c.637T>G ENSP00000505959.1:p.Tyr213Asp
ENST00000320005.5:c.637T>G ENSP00000316605.5:p.Tyr213Asp
NM_019098.4:c.637T>G NP_061971.3:p.Tyr213Asp
XM_011517138.1:c.223T>G XP_011515440.1:p.Tyr75Asp
XM_011517138.2:c.223T>G XP_011515440.1:p.Tyr75Asp
NM_019098.5:c.637T>G MANE Select NP_061971.3:p.Tyr213Asp