Canonical Allele Identifier: CA341374
Gene: GLRA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 16070
ClinVar RCV Id: RCV000017448 RCV003894811
dbSNP Id: rs121918416
MyVariant Identifiers: chr5:g.151231001C>T (hg19) chr5:g.151851440C>T (hg38)
PubMed: PMID:11781706 PMID:20301437
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.151851440C>T , CM000667.2:g.151851440C>T GRCh38
NC_000005.9:g.151231001C>T , CM000667.1:g.151231001C>T GRCh37
NC_000005.8:g.151211194C>T NCBI36
NG_011764.1:g.78397G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000274576.9:c.862G>A MANE Select ENSP00000274576.5:p.Val288Met
ENST00000274576.8:c.862G>A ENSP00000274576.4:p.Val288Met
ENST00000455880.2:c.862G>A ENSP00000411593.2:p.Val288Met
ENST00000462581.6:c.*620G>A ENSP00000430595.1:n.*620G>A
ENST00000471351.2:n.1145G>A
NM_000171.3:c.862G>A NP_000162.2:p.Val288Met
NM_001146040.1:c.862G>A NP_001139512.1:p.Val288Met
NM_001292000.1:c.613G>A NP_001278929.1:p.Val205Met
XM_005268412.2:c.862G>A XP_005268469.1:p.Val288Met
NM_000171.4:c.862G>A MANE Select NP_000162.2:p.Val288Met
NM_001146040.2:c.862G>A NP_001139512.1:p.Val288Met
NM_001292000.2:c.613G>A NP_001278929.1:p.Val205Met
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