Canonical Allele Identifier: CA129986118

Gene: GLRA1

Linked Data

• dbSNP Id: rs201471742
• MyVariant Identifiers: chr5:g.151231055A>G (hg19) ; chr5:g.151851494A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151851494A>G , CM000667.2:g.151851494A>G	GRCh38
NC_000005.9:g.151231055A>G , CM000667.1:g.151231055A>G	GRCh37
NC_000005.8:g.151211248A>G	NCBI36
NG_011764.1:g.78343T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274576.9:c.808T>C MANE Select	ENSP00000274576.5:p.Phe270Leu
ENST00000274576.8:c.808T>C	ENSP00000274576.4:p.Phe270Leu
ENST00000455880.2:c.808T>C	ENSP00000411593.2:p.Phe270Leu
ENST00000462581.6:c.*566T>C	ENSP00000430595.1:n.*566T>C
ENST00000471351.2:n.1091T>C
NM_000171.3:c.808T>C	NP_000162.2:p.Phe270Leu
NM_001146040.1:c.808T>C	NP_001139512.1:p.Phe270Leu
NM_001292000.1:c.559T>C	NP_001278929.1:p.Phe187Leu
XM_005268412.2:c.808T>C	XP_005268469.1:p.Phe270Leu
NM_000171.4:c.808T>C MANE Select	NP_000162.2:p.Phe270Leu
NM_001146040.2:c.808T>C	NP_001139512.1:p.Phe270Leu
NM_001292000.2:c.559T>C	NP_001278929.1:p.Phe187Leu