Canonical Allele Identifier: CA3523589

Gene: GLRA1

Linked Data

• dbSNP Id: rs761128346
• ExAC: 5:151230960 A / C
• gnomAD v2: 5-151230960-A-C
• gnomAD v4: 5-151851399-A-C
• MyVariant Identifiers: chr5:g.151230960A>C (hg19) ; chr5:g.151851399A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151851399A>C , CM000667.2:g.151851399A>C	GRCh38
NC_000005.9:g.151230960A>C , CM000667.1:g.151230960A>C	GRCh37
NC_000005.8:g.151211153A>C	NCBI36
NG_011764.1:g.78438T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000274576.9:c.903T>G MANE Select	ENSP00000274576.5:p.Ser301=
ENST00000274576.8:c.903T>G	ENSP00000274576.4:p.Ser301=
ENST00000455880.2:c.903T>G	ENSP00000411593.2:p.Ser301=
ENST00000462581.6:c.*661T>G	ENSP00000430595.1:n.*661T>G
ENST00000471351.2:n.1186T>G
NM_000171.3:c.903T>G	NP_000162.2:p.Ser301=
NM_001146040.1:c.903T>G	NP_001139512.1:p.Ser301=
NM_001292000.1:c.654T>G	NP_001278929.1:p.Ser218=
XM_005268412.2:c.903T>G	XP_005268469.1:p.Ser301=
NM_000171.4:c.903T>G MANE Select	NP_000162.2:p.Ser301=
NM_001146040.2:c.903T>G	NP_001139512.1:p.Ser301=
NM_001292000.2:c.654T>G	NP_001278929.1:p.Ser218=