Canonical Allele Identifier: CA10621015

Gene: GLRA1

Linked Data

• ClinVar Variation Id: 352314
• ClinVar RCV Id: RCV000336033 ; RCV002061270
• dbSNP Id: rs886060280
• gnomAD v2: 5-151234592-T-G
• gnomAD v3: 5-151855031-T-G
• gnomAD v4: 5-151855031-T-G
• MyVariant Identifiers: chr5:g.151234592T>G (hg19) ; chr5:g.151855031T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151855031T>G , CM000667.2:g.151855031T>G	GRCh38
NC_000005.9:g.151234592T>G , CM000667.1:g.151234592T>G	GRCh37
NC_000005.8:g.151214785T>G	NCBI36
NG_011764.1:g.74806A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274576.9:c.697+9A>C MANE Select	ENSP00000274576.5:n.697+9A>C
ENST00000274576.8:c.697+9A>C	ENSP00000274576.4:n.697+9A>C
ENST00000455880.2:c.697+9A>C	ENSP00000411593.2:n.697+9A>C
ENST00000462581.6:c.*455+9A>C	ENSP00000430595.1:n.*455+9A>C
ENST00000471351.2:n.980+9A>C
NM_000171.3:c.697+9A>C	NP_000162.2:n.697+9A>C
NM_001146040.1:c.697+9A>C	NP_001139512.1:n.697+9A>C
NM_001292000.1:c.448+9A>C	NP_001278929.1:n.448+9A>C
XM_005268412.2:c.697+9A>C	XP_005268469.1:n.697+9A>C
XR_002956230.1:n.41+1643T>G
NM_000171.4:c.697+9A>C MANE Select	NP_000162.2:n.697+9A>C
NM_001146040.2:c.697+9A>C	NP_001139512.1:n.697+9A>C
NM_001292000.2:c.448+9A>C	NP_001278929.1:n.448+9A>C