Canonical Allele Identifier: CA361851956

Gene: GLRA1

Linked Data

• ClinVar Variation Id: 1462530
• ClinVar RCV Id: RCV001954281 ; RCV003324842
• dbSNP Id: rs2113290161
• MyVariant Identifiers: chr5:g.151208624G>T (hg19) ; chr5:g.151829063G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151829063G>T , CM000667.2:g.151829063G>T	GRCh38
NC_000005.9:g.151208624G>T , CM000667.1:g.151208624G>T	GRCh37
NC_000005.8:g.151188817G>T	NCBI36
NG_011764.1:g.100774C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274576.9:c.917C>A MANE Select	ENSP00000274576.5:p.Ser306Tyr
ENST00000274576.8:c.917C>A	ENSP00000274576.4:p.Ser306Tyr
ENST00000455880.2:c.917C>A	ENSP00000411593.2:p.Ser306Tyr
ENST00000462581.6:c.*675C>A	ENSP00000430595.1:n.*675C>A
NM_000171.3:c.917C>A	NP_000162.2:p.Ser306Tyr
NM_001146040.1:c.917C>A	NP_001139512.1:p.Ser306Tyr
NM_001292000.1:c.668C>A	NP_001278929.1:p.Ser223Tyr
NM_000171.4:c.917C>A MANE Select	NP_000162.2:p.Ser306Tyr
NM_001146040.2:c.917C>A	NP_001139512.1:p.Ser306Tyr
NM_001292000.2:c.668C>A	NP_001278929.1:p.Ser223Tyr