Canonical Allele Identifier: CA10619773

Gene: GLRA1

Linked Data

• ClinVar Variation Id: 352329
• ClinVar RCV Id: RCV000372729
• dbSNP Id: rs886060283
• gnomAD v3: 5-151924820-C-G
• gnomAD v4: 5-151924820-C-G
• MyVariant Identifiers: chr5:g.151304381C>G (hg19) ; chr5:g.151924820C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151924820C>G , CM000667.2:g.151924820C>G	GRCh38
NC_000005.9:g.151304381C>G , CM000667.1:g.151304381C>G	GRCh37
NC_000005.8:g.151284574C>G	NCBI36
NG_011764.1:g.5017G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274576.9:c.-271G>C MANE Select	ENSP00000274576.5:n.-271G>C
ENST00000274576.8:c.-271G>C	ENSP00000274576.4:n.-271G>C
ENST00000455880.2:c.-271G>C	ENSP00000411593.2:n.-271G>C
ENST00000462581.6:c.-271G>C	ENSP00000430595.1:n.-271G>C
ENST00000471351.2:n.13G>C
NM_000171.3:c.-271G>C	NP_000162.2:n.-271G>C
NM_001146040.1:c.-271G>C	NP_001139512.1:n.-271G>C
NM_001292000.1:c.-392G>C	NP_001278929.1:n.-392G>C
XM_005268412.2:c.-271G>C	XP_005268469.1:n.-271G>C
NM_000171.4:c.-271G>C MANE Select	NP_000162.2:n.-271G>C
NM_001146040.2:c.-271G>C	NP_001139512.1:n.-271G>C
NM_001292000.2:c.-392G>C	NP_001278929.1:n.-392G>C