Canonical Allele Identifier: CA342950

Gene: GLRA1

Linked Data

• ClinVar Variation Id: 38328
• ClinVar RCV Id: RCV000031886 ; RCV001376551
• dbSNP Id: rs281864914
• ExAC: 5:151239523 C / T
• gnomAD v2: 5-151239523-C-T
• gnomAD v3: 5-151859962-C-T
• gnomAD v4: 5-151859962-C-T
• COSMIC: COSM1162701
• MyVariant Identifiers: chr5:g.151239523C>T (hg19) ; chr5:g.151239523_151239524delinsTG (hg19) ; chr5:g.151859962C>T (hg38) ; chr5:g.151859962_151859963delinsTG (hg38)
• PubMed: PMID:20301437

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151859962C>T , CM000667.2:g.151859962C>T	GRCh38
NC_000005.9:g.151239523C>T , CM000667.1:g.151239523C>T	GRCh37
NC_000005.8:g.151219716C>T	NCBI36
NG_011764.1:g.69875G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274576.9:c.299G>A MANE Select	ENSP00000274576.5:p.Arg100His
ENST00000274576.8:c.299G>A	ENSP00000274576.4:p.Arg100His
ENST00000455880.2:c.299G>A	ENSP00000411593.2:p.Arg100His
ENST00000462581.6:c.*57G>A	ENSP00000430595.1:n.*57G>A
ENST00000471351.2:n.582G>A
NM_000171.3:c.299G>A	NP_000162.2:p.Arg100His
NM_001146040.1:c.299G>A	NP_001139512.1:p.Arg100His
NM_001292000.1:c.50G>A	NP_001278929.1:p.Arg17His
XM_005268412.2:c.299G>A	XP_005268469.1:p.Arg100His
XR_002956230.1:n.229+2069C>T
NM_000171.4:c.299G>A MANE Select	NP_000162.2:p.Arg100His
NM_001146040.2:c.299G>A	NP_001139512.1:p.Arg100His
NM_001292000.2:c.50G>A	NP_001278929.1:p.Arg17His