Canonical Allele Identifier: CA361849923

Gene: GLRA1

Linked Data

• gnomAD v4: 5-151822816-C-A
• MyVariant Identifiers: chr5:g.151202377C>A (hg19) ; chr5:g.151822816C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151822816C>A , CM000667.2:g.151822816C>A	GRCh38
NC_000005.9:g.151202377C>A , CM000667.1:g.151202377C>A	GRCh37
NC_000005.8:g.151182570C>A	NCBI36
NG_011764.1:g.107021G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000274576.9:c.1207G>T MANE Select	ENSP00000274576.5:p.Glu403Ter
ENST00000274576.8:c.1207G>T	ENSP00000274576.4:p.Glu403Ter
ENST00000455880.2:c.1231G>T	ENSP00000411593.2:p.Glu411Ter
ENST00000462581.6:c.*965G>T	ENSP00000430595.1:n.*965G>T
NM_000171.3:c.1207G>T	NP_000162.2:p.Glu403Ter
NM_001146040.1:c.1231G>T	NP_001139512.1:p.Glu411Ter
NM_001292000.1:c.958G>T	NP_001278929.1:p.Glu320Ter
NM_000171.4:c.1207G>T MANE Select	NP_000162.2:p.Glu403Ter
NM_001146040.2:c.1231G>T	NP_001139512.1:p.Glu411Ter
NM_001292000.2:c.958G>T	NP_001278929.1:p.Glu320Ter