Canonical Allele Identifier: CA358643037

Gene: GLRB

Linked Data

• gnomAD v4: 4-157136878-T-A
• MyVariant Identifiers: chr4:g.158058030T>A (hg19) ; chr4:g.157136878T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.157136878T>A , CM000666.2:g.157136878T>A	GRCh38
NC_000004.11:g.158058030T>A , CM000666.1:g.158058030T>A	GRCh37
NC_000004.10:g.158277480T>A	NCBI36
NG_015823.1:g.65754T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264428.9:c.602T>A MANE Select	ENSP00000264428.4:p.Leu201Gln
ENST00000264428.8:c.602T>A	ENSP00000264428.4:p.Leu201Gln
ENST00000506411.5:c.*522T>A	ENSP00000422039.1:n.*522T>A
ENST00000509282.1:c.602T>A	ENSP00000427186.1:p.Leu201Gln
ENST00000510970.1:n.409T>A
ENST00000512619.5:c.123-33554T>A	ENSP00000425433.1:n.123-33554T>A
ENST00000541722.5:c.602T>A	ENSP00000441873.1:p.Leu201Gln
NM_000824.4:c.602T>A	NP_000815.1:p.Leu201Gln
NM_001166060.1:c.602T>A	NP_001159532.1:p.Leu201Gln
NM_001166061.1:c.602T>A	NP_001159533.1:p.Leu201Gln
XM_011531876.1:c.308T>A	XP_011530178.1:p.Leu103Gln
XM_017008034.1:c.308T>A	XP_016863523.1:p.Leu103Gln
XM_017008035.2:c.602T>A	XP_016863524.1:p.Leu201Gln
XR_001741207.2:n.783T>A
XR_002959723.1:n.783T>A
NM_000824.5:c.602T>A MANE Select	NP_000815.1:p.Leu201Gln
NM_001166060.2:c.602T>A	NP_001159532.1:p.Leu201Gln
NM_001166061.2:c.602T>A	NP_001159533.1:p.Leu201Gln