Canonical Allele Identifier: CA361846335

Gene: GLRA1

Linked Data

• ClinVar Variation Id: 522679
• ClinVar RCV Id: RCV000625824
• dbSNP Id: rs1554085893
• MyVariant Identifiers: chr5:g.151266280A>G (hg19) ; chr5:g.151886719A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151886719A>G , CM000667.2:g.151886719A>G	GRCh38
NC_000005.9:g.151266280A>G , CM000667.1:g.151266280A>G	GRCh37
NC_000005.8:g.151246473A>G	NCBI36
NG_011764.1:g.43118T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274576.9:c.252+2T>C MANE Select	ENSP00000274576.5:n.252+2T>C
ENST00000274576.8:c.252+2T>C	ENSP00000274576.4:n.252+2T>C
ENST00000455880.2:c.252+2T>C	ENSP00000411593.2:n.252+2T>C
ENST00000462581.6:c.*10+2T>C	ENSP00000430595.1:n.*10+2T>C
ENST00000471351.2:n.535+2T>C
NM_000171.3:c.252+2T>C	NP_000162.2:n.252+2T>C
NM_001146040.1:c.252+2T>C	NP_001139512.1:n.252+2T>C
NM_001292000.1:c.3+2T>C	NP_001278929.1:n.3+2T>C
XM_005268412.2:c.252+2T>C	XP_005268469.1:n.252+2T>C
XR_002956230.1:n.230-2607A>G
NM_000171.4:c.252+2T>C MANE Select	NP_000162.2:n.252+2T>C
NM_001146040.2:c.252+2T>C	NP_001139512.1:n.252+2T>C
NM_001292000.2:c.3+2T>C	NP_001278929.1:n.3+2T>C