Canonical Allele Identifier: CA361851295

Gene: GLRA1

Linked Data

• dbSNP Id: rs1226806237
• gnomAD v2: 5-151208502-T-C
• gnomAD v4: 5-151828941-T-C
• MyVariant Identifiers: chr5:g.151208502T>C (hg19) ; chr5:g.151828941T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151828941T>C , CM000667.2:g.151828941T>C	GRCh38
NC_000005.9:g.151208502T>C , CM000667.1:g.151208502T>C	GRCh37
NC_000005.8:g.151188695T>C	NCBI36
NG_011764.1:g.100896A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274576.9:c.1039A>G MANE Select	ENSP00000274576.5:p.Arg347Gly
ENST00000274576.8:c.1039A>G	ENSP00000274576.4:p.Arg347Gly
ENST00000455880.2:c.1039A>G	ENSP00000411593.2:p.Arg347Gly
ENST00000462581.6:c.*797A>G	ENSP00000430595.1:n.*797A>G
NM_000171.3:c.1039A>G	NP_000162.2:p.Arg347Gly
NM_001146040.1:c.1039A>G	NP_001139512.1:p.Arg347Gly
NM_001292000.1:c.790A>G	NP_001278929.1:p.Arg264Gly
NM_000171.4:c.1039A>G MANE Select	NP_000162.2:p.Arg347Gly
NM_001146040.2:c.1039A>G	NP_001139512.1:p.Arg347Gly
NM_001292000.2:c.790A>G	NP_001278929.1:p.Arg264Gly