Canonical Allele Identifier: CA341363
Gene: GLRA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 16063
ClinVar RCV Id: RCV000017441
dbSNP Id: rs121918410

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.151829060T>C , CM000667.2:g.151829060T>C GRCh38
NC_000005.9:g.151208621T>C , CM000667.1:g.151208621T>C GRCh37
NC_000005.8:g.151188814T>C NCBI36
NG_011764.1:g.100777A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000274576.9:c.920A>G MANE Select ENSP00000274576.5:p.Tyr307Cys
ENST00000274576.8:c.920A>G ENSP00000274576.4:p.Tyr307Cys
ENST00000455880.2:c.920A>G ENSP00000411593.2:p.Tyr307Cys
ENST00000462581.6:c.*678A>G ENSP00000430595.1:n.*678A>G
NM_000171.3:c.920A>G NP_000162.2:p.Tyr307Cys
NM_001146040.1:c.920A>G NP_001139512.1:p.Tyr307Cys
NM_001292000.1:c.671A>G NP_001278929.1:p.Tyr224Cys
NM_000171.4:c.920A>G MANE Select NP_000162.2:p.Tyr307Cys
NM_001146040.2:c.920A>G NP_001139512.1:p.Tyr307Cys
NM_001292000.2:c.671A>G NP_001278929.1:p.Tyr224Cys