Canonical Allele Identifier: CA361849602

Gene: GLRA1

Linked Data

• ClinVar Variation Id: 958747
• ClinVar RCV Id: RCV001231966
• dbSNP Id: rs750346568
• gnomAD v2: 5-151202260-G-A
• gnomAD v4: 5-151822699-G-A
• MyVariant Identifiers: chr5:g.151202260G>A (hg19) ; chr5:g.151822699G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151822699G>A , CM000667.2:g.151822699G>A	GRCh38
NC_000005.9:g.151202260G>A , CM000667.1:g.151202260G>A	GRCh37
NC_000005.8:g.151182453G>A	NCBI36
NG_011764.1:g.107138C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274576.9:c.1324C>T MANE Select	ENSP00000274576.5:p.Arg442Cys
ENST00000274576.8:c.1324C>T	ENSP00000274576.4:p.Arg442Cys
ENST00000455880.2:c.1348C>T	ENSP00000411593.2:p.Arg450Cys
ENST00000462581.6:c.*1082C>T	ENSP00000430595.1:n.*1082C>T
NM_000171.3:c.1324C>T	NP_000162.2:p.Arg442Cys
NM_001146040.1:c.1348C>T	NP_001139512.1:p.Arg450Cys
NM_001292000.1:c.1075C>T	NP_001278929.1:p.Arg359Cys
NM_000171.4:c.1324C>T MANE Select	NP_000162.2:p.Arg442Cys
NM_001146040.2:c.1348C>T	NP_001139512.1:p.Arg450Cys
NM_001292000.2:c.1075C>T	NP_001278929.1:p.Arg359Cys