Canonical Allele Identifier: CA3119930

Gene: GLRB

Linked Data

• ClinVar Variation Id: 347926
• ClinVar RCV Id: RCV000268287
• dbSNP Id: rs758939135
• ExAC: 4:158074002 A / G
• gnomAD v3: 4-157152850-A-G
• gnomAD v4: 4-157152850-A-G
• MyVariant Identifiers: chr4:g.158074002A>G (hg19) ; chr4:g.157152850A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.157152850A>G , CM000666.2:g.157152850A>G	GRCh38
NC_000004.11:g.158074002A>G , CM000666.1:g.158074002A>G	GRCh37
NC_000004.10:g.158293452A>G	NCBI36
NG_015823.1:g.81726A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000264428.9:c.1037A>G MANE Select	ENSP00000264428.4:p.Glu346Gly
ENST00000264428.8:c.1037A>G	ENSP00000264428.4:p.Glu346Gly
ENST00000509282.1:c.1037A>G	ENSP00000427186.1:p.Glu346Gly
ENST00000512619.5:c.123-17582A>G	ENSP00000425433.1:n.123-17582A>G
ENST00000541722.5:c.904+8891A>G	ENSP00000441873.1:n.904+8891A>G
NM_000824.4:c.1037A>G	NP_000815.1:p.Glu346Gly
NM_001166060.1:c.1037A>G	NP_001159532.1:p.Glu346Gly
NM_001166061.1:c.904+8891A>G	NP_001159533.1:n.904+8891A>G
XM_011531876.1:c.743A>G	XP_011530178.1:p.Glu248Gly
XM_017008034.1:c.743A>G	XP_016863523.1:p.Glu248Gly
XM_017008035.2:c.904+8891A>G	XP_016863524.1:n.904+8891A>G
XR_001741207.2:n.2489A>G
XR_002959723.1:n.3739A>G
NM_000824.5:c.1037A>G MANE Select	NP_000815.1:p.Glu346Gly
NM_001166060.2:c.1037A>G	NP_001159532.1:p.Glu346Gly
NM_001166061.2:c.904+8891A>G	NP_001159533.1:n.904+8891A>G