Canonical Allele Identifier: CA361849808

Gene: GLRA1

Linked Data

• dbSNP Id: rs769278491
• gnomAD v4: 5-151822761-A-T
• MyVariant Identifiers: chr5:g.151202322A>T (hg19) ; chr5:g.151822761A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151822761A>T , CM000667.2:g.151822761A>T	GRCh38
NC_000005.9:g.151202322A>T , CM000667.1:g.151202322A>T	GRCh37
NC_000005.8:g.151182515A>T	NCBI36
NG_011764.1:g.107076T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274576.9:c.1262T>A MANE Select	ENSP00000274576.5:p.Ile421Asn
ENST00000274576.8:c.1262T>A	ENSP00000274576.4:p.Ile421Asn
ENST00000455880.2:c.1286T>A	ENSP00000411593.2:p.Ile429Asn
ENST00000462581.6:c.*1020T>A	ENSP00000430595.1:n.*1020T>A
NM_000171.3:c.1262T>A	NP_000162.2:p.Ile421Asn
NM_001146040.1:c.1286T>A	NP_001139512.1:p.Ile429Asn
NM_001292000.1:c.1013T>A	NP_001278929.1:p.Ile338Asn
NM_000171.4:c.1262T>A MANE Select	NP_000162.2:p.Ile421Asn
NM_001146040.2:c.1286T>A	NP_001139512.1:p.Ile429Asn
NM_001292000.2:c.1013T>A	NP_001278929.1:p.Ile338Asn