Canonical Allele Identifier: CA16042510
Gene: GLRA1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 372808
ClinVar RCV Id: RCV000414290
dbSNP Id: rs1057517994

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.151851597G>C , CM000667.2:g.151851597G>C GRCh38
NC_000005.9:g.151231158G>C , CM000667.1:g.151231158G>C GRCh37
NC_000005.8:g.151211351G>C NCBI36
NG_011764.1:g.78240C>G

Transcript Alleles

HGVS Amino-acid change
NM_000171.3:c.705C>G VV NP_000162.2:p.Phe235Leu
NM_001146040.1:c.705C>G VV NP_001139512.1:p.Phe235Leu
NM_001292000.1:c.456C>G VV NP_001278929.1:p.Phe152Leu
XM_005268412.2:c.705C>G XP_005268469.1:p.Phe235Leu
ENST00000274576.8:c.705C>G ENSP00000274576.4:p.Phe235Leu
ENST00000455880.2:c.705C>G ENSP00000411593.2:p.Phe235Leu
ENST00000462581.6:c.*463C>G ENSP00000430595.1:p.=
ENST00000471351.2:n.988C>G