Canonical Allele Identifier: CA361850402

Gene: GLRA1

Linked Data

• ClinVar Variation Id: 758541
• ClinVar RCV Id: RCV001492322
• dbSNP Id: rs1581592732
• MyVariant Identifiers: chr5:g.151202528G>T (hg19) ; chr5:g.151822967G>T (hg38)

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