Canonical Allele Identifier: CA361850402
Gene: GLRA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 758541
ClinVar RCV Id: RCV001492322
dbSNP Id: rs1581592732

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.151822967G>T , CM000667.2:g.151822967G>T GRCh38
NC_000005.9:g.151202528G>T , CM000667.1:g.151202528G>T GRCh37
NC_000005.8:g.151182721G>T NCBI36
NG_011764.1:g.106870C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000274576.9:c.1060-4C>A MANE Select ENSP00000274576.5:n.1060-4C>A
ENST00000274576.8:c.1060-4C>A ENSP00000274576.4:n.1060-4C>A
ENST00000455880.2:c.1080C>A ENSP00000411593.2:p.Phe360Leu
ENST00000462581.6:c.*818-4C>A ENSP00000430595.1:n.*818-4C>A
NM_000171.3:c.1060-4C>A NP_000162.2:n.1060-4C>A
NM_001146040.1:c.1080C>A NP_001139512.1:p.Phe360Leu
NM_001292000.1:c.811-4C>A NP_001278929.1:n.811-4C>A
NM_000171.4:c.1060-4C>A MANE Select NP_000162.2:n.1060-4C>A
NM_001146040.2:c.1080C>A NP_001139512.1:p.Phe360Leu
NM_001292000.2:c.811-4C>A NP_001278929.1:n.811-4C>A