Canonical Allele Identifier: CA341355
Gene: GLRB HGNC NCBI

Linked Data

ClinVar Variation Id: 16058
ClinVar RCV Id: RCV000017436
dbSNP Id: rs121909749
MyVariant Identifiers: chr4:g.158064959G>A (hg19) chr4:g.157143807G>A (hg38)
PubMed: PMID:11929858 PMID:20301437
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.157143807G>A , CM000666.2:g.157143807G>A GRCh38
NC_000004.11:g.158064959G>A , CM000666.1:g.158064959G>A GRCh37
NC_000004.10:g.158284409G>A NCBI36
NG_015823.1:g.72683G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000264428.9:c.752G>A MANE Select ENSP00000264428.4:p.Gly251Asp
ENST00000264428.8:c.752G>A ENSP00000264428.4:p.Gly251Asp
ENST00000509282.1:c.752G>A ENSP00000427186.1:p.Gly251Asp
ENST00000512619.5:c.123-26625G>A ENSP00000425433.1:n.123-26625G>A
ENST00000541722.5:c.752G>A ENSP00000441873.1:p.Gly251Asp
NM_000824.4:c.752G>A NP_000815.1:p.Gly251Asp
NM_001166060.1:c.752G>A NP_001159532.1:p.Gly251Asp
NM_001166061.1:c.752G>A NP_001159533.1:p.Gly251Asp
XM_011531876.1:c.458G>A XP_011530178.1:p.Gly153Asp
XM_017008034.1:c.458G>A XP_016863523.1:p.Gly153Asp
XM_017008035.2:c.752G>A XP_016863524.1:p.Gly251Asp
XR_001741207.2:n.933G>A
XR_002959723.1:n.933G>A
NM_000824.5:c.752G>A MANE Select NP_000815.1:p.Gly251Asp
NM_001166060.2:c.752G>A NP_001159532.1:p.Gly251Asp
NM_001166061.2:c.752G>A NP_001159533.1:p.Gly251Asp
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