Canonical Allele Identifier: CA361850273

Gene: GLRA1

Linked Data

• MyVariant Identifiers: chr5:g.151202470C>T (hg19) ; chr5:g.151822909C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151822909C>T , CM000667.2:g.151822909C>T	GRCh38
NC_000005.9:g.151202470C>T , CM000667.1:g.151202470C>T	GRCh37
NC_000005.8:g.151182663C>T	NCBI36
NG_011764.1:g.106928G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274576.9:c.1114G>A MANE Select	ENSP00000274576.5:p.Ala372Thr
ENST00000274576.8:c.1114G>A	ENSP00000274576.4:p.Ala372Thr
ENST00000455880.2:c.1138G>A	ENSP00000411593.2:p.Ala380Thr
ENST00000462581.6:c.*872G>A	ENSP00000430595.1:n.*872G>A
NM_000171.3:c.1114G>A	NP_000162.2:p.Ala372Thr
NM_001146040.1:c.1138G>A	NP_001139512.1:p.Ala380Thr
NM_001292000.1:c.865G>A	NP_001278929.1:p.Ala289Thr
NM_000171.4:c.1114G>A MANE Select	NP_000162.2:p.Ala372Thr
NM_001146040.2:c.1138G>A	NP_001139512.1:p.Ala380Thr
NM_001292000.2:c.865G>A	NP_001278929.1:p.Ala289Thr