Canonical Allele Identifier: CA130006153

Gene: GLRA1

Linked Data

• ClinVar Variation Id: 2723494
• ClinVar RCV Id: RCV003596743
• dbSNP Id: rs983418003
• gnomAD v4: 5-151822750-T-C
• MyVariant Identifiers: chr5:g.151202311T>C (hg19) ; chr5:g.151822750T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151822750T>C , CM000667.2:g.151822750T>C	GRCh38
NC_000005.9:g.151202311T>C , CM000667.1:g.151202311T>C	GRCh37
NC_000005.8:g.151182504T>C	NCBI36
NG_011764.1:g.107087A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274576.9:c.1273A>G MANE Select	ENSP00000274576.5:p.Met425Val
ENST00000274576.8:c.1273A>G	ENSP00000274576.4:p.Met425Val
ENST00000455880.2:c.1297A>G	ENSP00000411593.2:p.Met433Val
ENST00000462581.6:c.*1031A>G	ENSP00000430595.1:n.*1031A>G
NM_000171.3:c.1273A>G	NP_000162.2:p.Met425Val
NM_001146040.1:c.1297A>G	NP_001139512.1:p.Met433Val
NM_001292000.1:c.1024A>G	NP_001278929.1:p.Met342Val
NM_000171.4:c.1273A>G MANE Select	NP_000162.2:p.Met425Val
NM_001146040.2:c.1297A>G	NP_001139512.1:p.Met433Val
NM_001292000.2:c.1024A>G	NP_001278929.1:p.Met342Val