Canonical Allele Identifier: CA447226801

Gene: GLRA1

Linked Data

• gnomAD v4: 5-151829053-T-C
• MyVariant Identifiers: chr5:g.151208614T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151829053T>C , CM000667.2:g.151829053T>C	GRCh38
NC_000005.9:g.151208614T>C , CM000667.1:g.151208614T>C	GRCh37
NC_000005.8:g.151188807T>C	NCBI36
NG_011764.1:g.100784A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274576.9:c.927A>G MANE Select	ENSP00000274576.5:p.Lys309=
ENST00000274576.8:c.927A>G	ENSP00000274576.4:p.Lys309=
ENST00000455880.2:c.927A>G	ENSP00000411593.2:p.Lys309=
ENST00000462581.6:c.*685A>G	ENSP00000430595.1:n.*685A>G
NM_000171.3:c.927A>G	NP_000162.2:p.Lys309=
NM_001146040.1:c.927A>G	NP_001139512.1:p.Lys309=
NM_001292000.1:c.678A>G	NP_001278929.1:p.Lys226=
NM_000171.4:c.927A>G MANE Select	NP_000162.2:p.Lys309=
NM_001146040.2:c.927A>G	NP_001139512.1:p.Lys309=
NM_001292000.2:c.678A>G	NP_001278929.1:p.Lys226=