Canonical Allele Identifier: CA3523474

Gene: GLRA1

Linked Data

• ClinVar Variation Id: 1396326
• ClinVar RCV Id: RCV001887395
• dbSNP Id: rs775717500
• ExAC: 5:151202343 T / A
• gnomAD v2: 5-151202343-T-A
• gnomAD v3: 5-151822782-T-A
• gnomAD v4: 5-151822782-T-A
• MyVariant Identifiers: chr5:g.151202343T>A (hg19) ; chr5:g.151822782T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151822782T>A , CM000667.2:g.151822782T>A	GRCh38
NC_000005.9:g.151202343T>A , CM000667.1:g.151202343T>A	GRCh37
NC_000005.8:g.151182536T>A	NCBI36
NG_011764.1:g.107055A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274576.9:c.1241A>T MANE Select	ENSP00000274576.5:p.Lys414Met
ENST00000274576.8:c.1241A>T	ENSP00000274576.4:p.Lys414Met
ENST00000455880.2:c.1265A>T	ENSP00000411593.2:p.Lys422Met
ENST00000462581.6:c.*999A>T	ENSP00000430595.1:n.*999A>T
NM_000171.3:c.1241A>T	NP_000162.2:p.Lys414Met
NM_001146040.1:c.1265A>T	NP_001139512.1:p.Lys422Met
NM_001292000.1:c.992A>T	NP_001278929.1:p.Lys331Met
NM_000171.4:c.1241A>T MANE Select	NP_000162.2:p.Lys414Met
NM_001146040.2:c.1265A>T	NP_001139512.1:p.Lys422Met
NM_001292000.2:c.992A>T	NP_001278929.1:p.Lys331Met