Canonical Allele Identifier: CA1799867091
Community Standard Title: NM_019098.5(CNGB3):c.1405T= (p.Tyr469=)
Gene: CNGB3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86628994A= , CM000670.2:g.86628994A= GRCh38
NC_000008.10:g.87641222A= , CM000670.1:g.87641222A= GRCh37
NC_000008.9:g.87710338A= NCBI36
NG_016980.1:g.119682T=

Transcript Alleles

HGVS Amino-acid Change
NM_019098.5:c.1405T= MANE Select NP_061971.3:p.Tyr469=
ENST00000320005.6:c.1405T= MANE Select ENSP00000316605.5:p.Tyr469=
NM_019098.4:c.1405T= NP_061971.3:p.Tyr469=
ENST00000320005.5:c.1405T= ENSP00000316605.5:p.Tyr469=
ENST00000681546.1:n.1225T=
ENST00000681746.1:c.1405T= ENSP00000505959.1:p.Tyr469=
XM_011517138.1:c.991T= XP_011515440.1:p.Tyr331=
XM_011517138.2:c.991T= XP_011515440.1:p.Tyr331=