Canonical Allele Identifier: CA358642881

Gene: GLRB

Linked Data

• ClinVar Variation Id: 1406050
• ClinVar RCV Id: RCV001906800
• dbSNP Id: rs752345500
• gnomAD v3: 4-157136843-G-T
• gnomAD v4: 4-157136843-G-T
• MyVariant Identifiers: chr4:g.158057995G>T (hg19) ; chr4:g.157136843G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.157136843G>T , CM000666.2:g.157136843G>T	GRCh38
NC_000004.11:g.158057995G>T , CM000666.1:g.158057995G>T	GRCh37
NC_000004.10:g.158277445G>T	NCBI36
NG_015823.1:g.65719G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264428.9:c.567G>T MANE Select	ENSP00000264428.4:p.Leu189Phe
ENST00000264428.8:c.567G>T	ENSP00000264428.4:p.Leu189Phe
ENST00000506411.5:c.*487G>T	ENSP00000422039.1:n.*487G>T
ENST00000509282.1:c.567G>T	ENSP00000427186.1:p.Leu189Phe
ENST00000510970.1:n.374G>T
ENST00000512619.5:c.123-33589G>T	ENSP00000425433.1:n.123-33589G>T
ENST00000541722.5:c.567G>T	ENSP00000441873.1:p.Leu189Phe
NM_000824.4:c.567G>T	NP_000815.1:p.Leu189Phe
NM_001166060.1:c.567G>T	NP_001159532.1:p.Leu189Phe
NM_001166061.1:c.567G>T	NP_001159533.1:p.Leu189Phe
XM_011531876.1:c.273G>T	XP_011530178.1:p.Leu91Phe
XM_017008034.1:c.273G>T	XP_016863523.1:p.Leu91Phe
XM_017008035.2:c.567G>T	XP_016863524.1:p.Leu189Phe
XR_001741207.2:n.748G>T
XR_002959723.1:n.748G>T
NM_000824.5:c.567G>T MANE Select	NP_000815.1:p.Leu189Phe
NM_001166060.2:c.567G>T	NP_001159532.1:p.Leu189Phe
NM_001166061.2:c.567G>T	NP_001159533.1:p.Leu189Phe