Canonical Allele Identifier: CA3523777
Gene: GLRA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1014337
ClinVar RCV Id: RCV001313060 RCV003323852
dbSNP Id: rs199910297
ExAC: 5:151271967 C / T
gnomAD v2: 5-151271967-C-T
gnomAD v3: 5-151892406-C-T
gnomAD v4: 5-151892406-C-T
COSMIC: COSM1739147
MyVariant Identifiers: chr5:g.151271967C>T (hg19) chr5:g.151892406C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.151892406C>T , CM000667.2:g.151892406C>T GRCh38
NC_000005.9:g.151271967C>T , CM000667.1:g.151271967C>T GRCh37
NC_000005.8:g.151252160C>T NCBI36
NG_011764.1:g.37431G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000274576.9:c.89G>A MANE Select ENSP00000274576.5:p.Arg30His
ENST00000274576.8:c.89G>A ENSP00000274576.4:p.Arg30His
ENST00000455880.2:c.89G>A ENSP00000411593.2:p.Arg30His
ENST00000462581.6:c.57-5618G>A ENSP00000430595.1:n.57-5618G>A
ENST00000471351.2:n.372G>A
NM_000171.3:c.89G>A NP_000162.2:p.Arg30His
NM_001146040.1:c.89G>A NP_001139512.1:p.Arg30His
NM_001292000.1:c.-65-5618G>A NP_001278929.1:n.-65-5618G>A
XM_005268412.2:c.89G>A XP_005268469.1:p.Arg30His
NM_000171.4:c.89G>A MANE Select NP_000162.2:p.Arg30His
NM_001146040.2:c.89G>A NP_001139512.1:p.Arg30His
NM_001292000.2:c.-65-5618G>A NP_001278929.1:n.-65-5618G>A
Search 100 bp 5'
Search 100 bp 3'