Canonical Allele Identifier: CA342965
Gene: GLRA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 38335
dbSNP Id: rs281864921

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.151829059del , CM000667.2:g.151829059del GRCh38
NC_000005.9:g.151208620del , CM000667.1:g.151208620del GRCh37
NC_000005.8:g.151188813del NCBI36
NG_011764.1:g.100778del

Transcript Alleles

HGVS Amino-acid change
ENST00000274576.9:c.921del MANE Select ENSP00000274576.5:p.Tyr307Ter
ENST00000274576.8:c.921del ENSP00000274576.4:p.Tyr307Ter
ENST00000455880.2:c.921del ENSP00000411593.2:p.Tyr307Ter
ENST00000462581.6:c.*679del ENSP00000430595.1:n.*679del
NM_000171.3:c.921del NP_000162.2:p.Tyr307Ter
NM_001146040.1:c.921del NP_001139512.1:p.Tyr307Ter
NM_001292000.1:c.672del NP_001278929.1:p.Tyr224Ter
NM_000171.4:c.921del MANE Select NP_000162.2:p.Tyr307Ter
NM_001146040.2:c.921del NP_001139512.1:p.Tyr307Ter
NM_001292000.2:c.672del NP_001278929.1:p.Tyr224Ter