Canonical Allele Identifier: CA1799868804
Community Standard Title: NM_019098.5(CNGB3):c.1193A= (p.Tyr398=)
Gene: CNGB3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86632879T= , CM000670.2:g.86632879T= GRCh38
NC_000008.10:g.87645107T= , CM000670.1:g.87645107T= GRCh37
NC_000008.9:g.87714223T= NCBI36
NG_016980.1:g.115797A=

Transcript Alleles

HGVS Amino-acid Change
NM_019098.5:c.1193A= MANE Select NP_061971.3:p.Tyr398=
ENST00000320005.6:c.1193A= MANE Select ENSP00000316605.5:p.Tyr398=
NM_019098.4:c.1193A= NP_061971.3:p.Tyr398=
ENST00000320005.5:c.1193A= ENSP00000316605.5:p.Tyr398=
ENST00000681546.1:n.1013A=
ENST00000681746.1:c.1193A= ENSP00000505959.1:p.Tyr398=
XM_011517138.1:c.779A= XP_011515440.1:p.Tyr260=
XM_011517138.2:c.779A= XP_011515440.1:p.Tyr260=