Canonical Allele Identifier: CA361849811

Gene: GLRA1

Linked Data

• MyVariant Identifiers: chr5:g.151202325C>A (hg19) ; chr5:g.151822764C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151822764C>A , CM000667.2:g.151822764C>A	GRCh38
NC_000005.9:g.151202325C>A , CM000667.1:g.151202325C>A	GRCh37
NC_000005.8:g.151182518C>A	NCBI36
NG_011764.1:g.107073G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274576.9:c.1259G>T MANE Select	ENSP00000274576.5:p.Arg420Leu
ENST00000274576.8:c.1259G>T	ENSP00000274576.4:p.Arg420Leu
ENST00000455880.2:c.1283G>T	ENSP00000411593.2:p.Arg428Leu
ENST00000462581.6:c.*1017G>T	ENSP00000430595.1:n.*1017G>T
NM_000171.3:c.1259G>T	NP_000162.2:p.Arg420Leu
NM_001146040.1:c.1283G>T	NP_001139512.1:p.Arg428Leu
NM_001292000.1:c.1010G>T	NP_001278929.1:p.Arg337Leu
NM_000171.4:c.1259G>T MANE Select	NP_000162.2:p.Arg420Leu
NM_001146040.2:c.1283G>T	NP_001139512.1:p.Arg428Leu
NM_001292000.2:c.1010G>T	NP_001278929.1:p.Arg337Leu