Canonical Allele Identifier: CA361837483

Gene: GLRA1

Linked Data

• ClinVar Variation Id: 532835
• ClinVar RCV Id: RCV002232625
• dbSNP Id: rs1554083576
• MyVariant Identifiers: chr5:g.151231004T>C (hg19) ; chr5:g.151851443T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151851443T>C , CM000667.2:g.151851443T>C	GRCh38
NC_000005.9:g.151231004T>C , CM000667.1:g.151231004T>C	GRCh37
NC_000005.8:g.151211197T>C	NCBI36
NG_011764.1:g.78394A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274576.9:c.859A>G MANE Select	ENSP00000274576.5:p.Thr287Ala
ENST00000274576.8:c.859A>G	ENSP00000274576.4:p.Thr287Ala
ENST00000455880.2:c.859A>G	ENSP00000411593.2:p.Thr287Ala
ENST00000462581.6:c.*617A>G	ENSP00000430595.1:n.*617A>G
ENST00000471351.2:n.1142A>G
NM_000171.3:c.859A>G	NP_000162.2:p.Thr287Ala
NM_001146040.1:c.859A>G	NP_001139512.1:p.Thr287Ala
NM_001292000.1:c.610A>G	NP_001278929.1:p.Thr204Ala
XM_005268412.2:c.859A>G	XP_005268469.1:p.Thr287Ala
NM_000171.4:c.859A>G MANE Select	NP_000162.2:p.Thr287Ala
NM_001146040.2:c.859A>G	NP_001139512.1:p.Thr287Ala
NM_001292000.2:c.610A>G	NP_001278929.1:p.Thr204Ala