Canonical Allele Identifier: CA361850077

Gene: GLRA1

Linked Data

• ClinVar Variation Id: 1008357
• ClinVar RCV Id: RCV001305680 ; RCV002307724
• dbSNP Id: rs775599403
• MyVariant Identifiers: chr5:g.151202410T>A (hg19) ; chr5:g.151822849T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151822849T>A , CM000667.2:g.151822849T>A	GRCh38
NC_000005.9:g.151202410T>A , CM000667.1:g.151202410T>A	GRCh37
NC_000005.8:g.151182603T>A	NCBI36
NG_011764.1:g.106988A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274576.9:c.1174A>T MANE Select	ENSP00000274576.5:p.Asn392Tyr
ENST00000274576.8:c.1174A>T	ENSP00000274576.4:p.Asn392Tyr
ENST00000455880.2:c.1198A>T	ENSP00000411593.2:p.Asn400Tyr
ENST00000462581.6:c.*932A>T	ENSP00000430595.1:n.*932A>T
NM_000171.3:c.1174A>T	NP_000162.2:p.Asn392Tyr
NM_001146040.1:c.1198A>T	NP_001139512.1:p.Asn400Tyr
NM_001292000.1:c.925A>T	NP_001278929.1:p.Asn309Tyr
NM_000171.4:c.1174A>T MANE Select	NP_000162.2:p.Asn392Tyr
NM_001146040.2:c.1198A>T	NP_001139512.1:p.Asn400Tyr
NM_001292000.2:c.925A>T	NP_001278929.1:p.Asn309Tyr