Canonical Allele Identifier: CA2579200012
Gene: CNGB3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86632694A>T , CM000670.2:g.86632694A>T GRCh38
NC_000008.10:g.87644922A>T , CM000670.1:g.87644922A>T GRCh37
NC_000008.9:g.87714038A>T NCBI36
NG_016980.1:g.115982T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000320005.6:c.1320+58T>A MANE Select ENSP00000316605.5:n.1320+58T>A
ENST00000681546.1:n.1140+58T>A
ENST00000681746.1:c.1320+58T>A ENSP00000505959.1:n.1320+58T>A
ENST00000320005.5:c.1320+58T>A ENSP00000316605.5:n.1320+58T>A
NM_019098.4:c.1320+58T>A NP_061971.3:n.1320+58T>A
XM_011517138.1:c.906+58T>A XP_011515440.1:n.906+58T>A
XM_011517138.2:c.906+58T>A XP_011515440.1:n.906+58T>A
NM_019098.5:c.1320+58T>A MANE Select NP_061971.3:n.1320+58T>A