Canonical Allele Identifier: CA358642802

Gene: GLRB

Linked Data

• dbSNP Id: rs1347138695
• gnomAD v2: 4-158057958-T-G
• gnomAD v4: 4-157136806-T-G
• MyVariant Identifiers: chr4:g.158057958T>G (hg19) ; chr4:g.157136806T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.157136806T>G , CM000666.2:g.157136806T>G	GRCh38
NC_000004.11:g.158057958T>G , CM000666.1:g.158057958T>G	GRCh37
NC_000004.10:g.158277408T>G	NCBI36
NG_015823.1:g.65682T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264428.9:c.530T>G MANE Select	ENSP00000264428.4:p.Leu177Ter
ENST00000264428.8:c.530T>G	ENSP00000264428.4:p.Leu177Ter
ENST00000506411.5:c.*450T>G	ENSP00000422039.1:n.*450T>G
ENST00000509282.1:c.530T>G	ENSP00000427186.1:p.Leu177Ter
ENST00000510970.1:n.337T>G
ENST00000512619.5:c.123-33626T>G	ENSP00000425433.1:n.123-33626T>G
ENST00000541722.5:c.530T>G	ENSP00000441873.1:p.Leu177Ter
NM_000824.4:c.530T>G	NP_000815.1:p.Leu177Ter
NM_001166060.1:c.530T>G	NP_001159532.1:p.Leu177Ter
NM_001166061.1:c.530T>G	NP_001159533.1:p.Leu177Ter
XM_011531876.1:c.236T>G	XP_011530178.1:p.Leu79Ter
XM_017008034.1:c.236T>G	XP_016863523.1:p.Leu79Ter
XM_017008035.2:c.530T>G	XP_016863524.1:p.Leu177Ter
XR_001741207.2:n.711T>G
XR_002959723.1:n.711T>G
NM_000824.5:c.530T>G MANE Select	NP_000815.1:p.Leu177Ter
NM_001166060.2:c.530T>G	NP_001159532.1:p.Leu177Ter
NM_001166061.2:c.530T>G	NP_001159533.1:p.Leu177Ter