Canonical Allele Identifier: CA361837810

Gene: GLRA1

Linked Data

• ClinVar Variation Id: 532833
• ClinVar RCV Id: RCV002232624
• dbSNP Id: rs1554083597
• MyVariant Identifiers: chr5:g.151231070G>A (hg19) ; chr5:g.151851509G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151851509G>A , CM000667.2:g.151851509G>A	GRCh38
NC_000005.9:g.151231070G>A , CM000667.1:g.151231070G>A	GRCh37
NC_000005.8:g.151211263G>A	NCBI36
NG_011764.1:g.78328C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000274576.9:c.793C>T MANE Select	ENSP00000274576.5:p.Leu265Phe
ENST00000274576.8:c.793C>T	ENSP00000274576.4:p.Leu265Phe
ENST00000455880.2:c.793C>T	ENSP00000411593.2:p.Leu265Phe
ENST00000462581.6:c.*551C>T	ENSP00000430595.1:n.*551C>T
ENST00000471351.2:n.1076C>T
NM_000171.3:c.793C>T	NP_000162.2:p.Leu265Phe
NM_001146040.1:c.793C>T	NP_001139512.1:p.Leu265Phe
NM_001292000.1:c.544C>T	NP_001278929.1:p.Leu182Phe
XM_005268412.2:c.793C>T	XP_005268469.1:p.Leu265Phe
NM_000171.4:c.793C>T MANE Select	NP_000162.2:p.Leu265Phe
NM_001146040.2:c.793C>T	NP_001139512.1:p.Leu265Phe
NM_001292000.2:c.544C>T	NP_001278929.1:p.Leu182Phe