Canonical Allele Identifier: CA356531

Gene: GLRA1

Linked Data

• ClinVar Variation Id: 242682
• ClinVar RCV Id: RCV000538375 ; RCV001762554
• dbSNP Id: rs281864913
• ExAC: 5:151208511 G / A
• gnomAD v2: 5-151208511-G-A
• gnomAD v3: 5-151828950-G-A
• gnomAD v4: 5-151828950-G-A
• MyVariant Identifiers: chr5:g.151208511G>A (hg19) ; chr5:g.151828950G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151828950G>A , CM000667.2:g.151828950G>A	GRCh38
NC_000005.9:g.151208511G>A , CM000667.1:g.151208511G>A	GRCh37
NC_000005.8:g.151188704G>A	NCBI36
NG_011764.1:g.100887C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274576.9:c.1030C>T MANE Select	ENSP00000274576.5:p.Arg344Ter
ENST00000274576.8:c.1030C>T	ENSP00000274576.4:p.Arg344Ter
ENST00000455880.2:c.1030C>T	ENSP00000411593.2:p.Arg344Ter
ENST00000462581.6:c.*788C>T	ENSP00000430595.1:n.*788C>T
NM_000171.3:c.1030C>T	NP_000162.2:p.Arg344Ter
NM_001146040.1:c.1030C>T	NP_001139512.1:p.Arg344Ter
NM_001292000.1:c.781C>T	NP_001278929.1:p.Arg261Ter
NM_000171.4:c.1030C>T MANE Select	NP_000162.2:p.Arg344Ter
NM_001146040.2:c.1030C>T	NP_001139512.1:p.Arg344Ter
NM_001292000.2:c.781C>T	NP_001278929.1:p.Arg261Ter