Canonical Allele Identifier: CA361837814

Gene: GLRA1

Linked Data

• MyVariant Identifiers: chr5:g.151231070G>T (hg19) ; chr5:g.151851509G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000274576.9:c.793C>A MANE Select	ENSP00000274576.5:p.Leu265Ile
ENST00000274576.8:c.793C>A	ENSP00000274576.4:p.Leu265Ile
ENST00000455880.2:c.793C>A	ENSP00000411593.2:p.Leu265Ile
ENST00000462581.6:c.*551C>A	ENSP00000430595.1:n.*551C>A
ENST00000471351.2:n.1076C>A
NM_000171.3:c.793C>A	NP_000162.2:p.Leu265Ile
NM_001146040.1:c.793C>A	NP_001139512.1:p.Leu265Ile
NM_001292000.1:c.544C>A	NP_001278929.1:p.Leu182Ile
XM_005268412.2:c.793C>A	XP_005268469.1:p.Leu265Ile
NM_000171.4:c.793C>A MANE Select	NP_000162.2:p.Leu265Ile
NM_001146040.2:c.793C>A	NP_001139512.1:p.Leu265Ile
NM_001292000.2:c.544C>A	NP_001278929.1:p.Leu182Ile