Canonical Allele Identifier: CA341371

Gene: GLRA1

Linked Data

• ClinVar Variation Id: 16069
• ClinVar RCV Id: RCV000017447
• dbSNP Id: rs121918415
• gnomAD v3: 5-151855047-G-T
• gnomAD v4: 5-151855047-G-T
• MyVariant Identifiers: chr5:g.151234608G>T (hg19) ; chr5:g.151855047G>T (hg38)
• PubMed: PMID:7874121 ; PMID:8651283 ; PMID:11702206 ; PMID:20301437

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151855047G>T , CM000667.2:g.151855047G>T	GRCh38
NC_000005.9:g.151234608G>T , CM000667.1:g.151234608G>T	GRCh37
NC_000005.8:g.151214801G>T	NCBI36
NG_011764.1:g.74790C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274576.9:c.690C>A MANE Select	ENSP00000274576.5:p.Tyr230Ter
ENST00000274576.8:c.690C>A	ENSP00000274576.4:p.Tyr230Ter
ENST00000455880.2:c.690C>A	ENSP00000411593.2:p.Tyr230Ter
ENST00000462581.6:c.*448C>A	ENSP00000430595.1:n.*448C>A
ENST00000471351.2:n.973C>A
NM_000171.3:c.690C>A	NP_000162.2:p.Tyr230Ter
NM_001146040.1:c.690C>A	NP_001139512.1:p.Tyr230Ter
NM_001292000.1:c.441C>A	NP_001278929.1:p.Tyr147Ter
XM_005268412.2:c.690C>A	XP_005268469.1:p.Tyr230Ter
XR_002956230.1:n.41+1659G>T
NM_000171.4:c.690C>A MANE Select	NP_000162.2:p.Tyr230Ter
NM_001146040.2:c.690C>A	NP_001139512.1:p.Tyr230Ter
NM_001292000.2:c.441C>A	NP_001278929.1:p.Tyr147Ter