Canonical Allele Identifier: CA361837427

Gene: GLRA1

Linked Data

• ClinVar Variation Id: 963825
• ClinVar RCV Id: RCV001237912
• dbSNP Id: rs1314623901
• gnomAD v3: 5-151851430-A-G
• gnomAD v4: 5-151851430-A-G
• MyVariant Identifiers: chr5:g.151230991A>G (hg19) ; chr5:g.151851430A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151851430A>G , CM000667.2:g.151851430A>G	GRCh38
NC_000005.9:g.151230991A>G , CM000667.1:g.151230991A>G	GRCh37
NC_000005.8:g.151211184A>G	NCBI36
NG_011764.1:g.78407T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000274576.9:c.872T>C MANE Select	ENSP00000274576.5:p.Met291Thr
ENST00000274576.8:c.872T>C	ENSP00000274576.4:p.Met291Thr
ENST00000455880.2:c.872T>C	ENSP00000411593.2:p.Met291Thr
ENST00000462581.6:c.*630T>C	ENSP00000430595.1:n.*630T>C
ENST00000471351.2:n.1155T>C
NM_000171.3:c.872T>C	NP_000162.2:p.Met291Thr
NM_001146040.1:c.872T>C	NP_001139512.1:p.Met291Thr
NM_001292000.1:c.623T>C	NP_001278929.1:p.Met208Thr
XM_005268412.2:c.872T>C	XP_005268469.1:p.Met291Thr
NM_000171.4:c.872T>C MANE Select	NP_000162.2:p.Met291Thr
NM_001146040.2:c.872T>C	NP_001139512.1:p.Met291Thr
NM_001292000.2:c.623T>C	NP_001278929.1:p.Met208Thr