Canonical Allele Identifier: CA361850384

Gene: GLRA1

Linked Data

• dbSNP Id: rs1260468986
• gnomAD v2: 5-151202522-C-A
• gnomAD v4: 5-151822961-C-A
• MyVariant Identifiers: chr5:g.151202522C>A (hg19) ; chr5:g.151822961C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151822961C>A , CM000667.2:g.151822961C>A	GRCh38
NC_000005.9:g.151202522C>A , CM000667.1:g.151202522C>A	GRCh37
NC_000005.8:g.151182715C>A	NCBI36
NG_011764.1:g.106876G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274576.9:c.1062G>T MANE Select	ENSP00000274576.5:p.Glu354Asp
ENST00000274576.8:c.1062G>T	ENSP00000274576.4:p.Glu354Asp
ENST00000455880.2:c.1086G>T	ENSP00000411593.2:p.Glu362Asp
ENST00000462581.6:c.*820G>T	ENSP00000430595.1:n.*820G>T
NM_000171.3:c.1062G>T	NP_000162.2:p.Glu354Asp
NM_001146040.1:c.1086G>T	NP_001139512.1:p.Glu362Asp
NM_001292000.1:c.813G>T	NP_001278929.1:p.Glu271Asp
NM_000171.4:c.1062G>T MANE Select	NP_000162.2:p.Glu354Asp
NM_001146040.2:c.1086G>T	NP_001139512.1:p.Glu362Asp
NM_001292000.2:c.813G>T	NP_001278929.1:p.Glu271Asp