Canonical Allele Identifier: CA361838329

Gene: GLRA1

Linked Data

• gnomAD v4: 5-151851602-T-C
• MyVariant Identifiers: chr5:g.151231163T>C (hg19) ; chr5:g.151851602T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151851602T>C , CM000667.2:g.151851602T>C	GRCh38
NC_000005.9:g.151231163T>C , CM000667.1:g.151231163T>C	GRCh37
NC_000005.8:g.151211356T>C	NCBI36
NG_011764.1:g.78235A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274576.9:c.700A>G MANE Select	ENSP00000274576.5:p.Lys234Glu
ENST00000274576.8:c.700A>G	ENSP00000274576.4:p.Lys234Glu
ENST00000455880.2:c.700A>G	ENSP00000411593.2:p.Lys234Glu
ENST00000462581.6:c.*458A>G	ENSP00000430595.1:n.*458A>G
ENST00000471351.2:n.983A>G
NM_000171.3:c.700A>G	NP_000162.2:p.Lys234Glu
NM_001146040.1:c.700A>G	NP_001139512.1:p.Lys234Glu
NM_001292000.1:c.451A>G	NP_001278929.1:p.Lys151Glu
XM_005268412.2:c.700A>G	XP_005268469.1:p.Lys234Glu
NM_000171.4:c.700A>G MANE Select	NP_000162.2:p.Lys234Glu
NM_001146040.2:c.700A>G	NP_001139512.1:p.Lys234Glu
NM_001292000.2:c.451A>G	NP_001278929.1:p.Lys151Glu