Canonical Allele Identifier: CA361847964

Gene: GLRA1

Linked Data

• ClinVar Variation Id: 2843026
• ClinVar RCV Id: RCV003762674
• MyVariant Identifiers: chr5:g.151271927A>C (hg19) ; chr5:g.151892366A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151892366A>C , CM000667.2:g.151892366A>C	GRCh38
NC_000005.9:g.151271927A>C , CM000667.1:g.151271927A>C	GRCh37
NC_000005.8:g.151252120A>C	NCBI36
NG_011764.1:g.37471T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000274576.9:c.129T>G MANE Select	ENSP00000274576.5:p.Asp43Glu
ENST00000274576.8:c.129T>G	ENSP00000274576.4:p.Asp43Glu
ENST00000455880.2:c.129T>G	ENSP00000411593.2:p.Asp43Glu
ENST00000462581.6:c.57-5578T>G	ENSP00000430595.1:n.57-5578T>G
ENST00000471351.2:n.412T>G
NM_000171.3:c.129T>G	NP_000162.2:p.Asp43Glu
NM_001146040.1:c.129T>G	NP_001139512.1:p.Asp43Glu
NM_001292000.1:c.-65-5578T>G	NP_001278929.1:n.-65-5578T>G
XM_005268412.2:c.129T>G	XP_005268469.1:p.Asp43Glu
XR_002956230.1:n.3270A>C
NM_000171.4:c.129T>G MANE Select	NP_000162.2:p.Asp43Glu
NM_001146040.2:c.129T>G	NP_001139512.1:p.Asp43Glu
NM_001292000.2:c.-65-5578T>G	NP_001278929.1:n.-65-5578T>G