Canonical Allele Identifier: CA361849914

Gene: GLRA1

Linked Data

• ClinVar Variation Id: 1720637
• ClinVar RCV Id: RCV002298355
• dbSNP Id: rs1220060322
• gnomAD v2: 5-151202372-C-T
• gnomAD v4: 5-151822811-C-T
• MyVariant Identifiers: chr5:g.151202372C>T (hg19) ; chr5:g.151822811C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151822811C>T , CM000667.2:g.151822811C>T	GRCh38
NC_000005.9:g.151202372C>T , CM000667.1:g.151202372C>T	GRCh37
NC_000005.8:g.151182565C>T	NCBI36
NG_011764.1:g.107026G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274576.9:c.1212G>A MANE Select	ENSP00000274576.5:p.Met404Ile
ENST00000274576.8:c.1212G>A	ENSP00000274576.4:p.Met404Ile
ENST00000455880.2:c.1236G>A	ENSP00000411593.2:p.Met412Ile
ENST00000462581.6:c.*970G>A	ENSP00000430595.1:n.*970G>A
NM_000171.3:c.1212G>A	NP_000162.2:p.Met404Ile
NM_001146040.1:c.1236G>A	NP_001139512.1:p.Met412Ile
NM_001292000.1:c.963G>A	NP_001278929.1:p.Met321Ile
NM_000171.4:c.1212G>A MANE Select	NP_000162.2:p.Met404Ile
NM_001146040.2:c.1236G>A	NP_001139512.1:p.Met412Ile
NM_001292000.2:c.963G>A	NP_001278929.1:p.Met321Ile