Canonical Allele Identifier: CA358643030

Gene: GLRB

Linked Data

• MyVariant Identifiers: chr4:g.158058028A>T (hg19) ; chr4:g.157136876A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.157136876A>T , CM000666.2:g.157136876A>T	GRCh38
NC_000004.11:g.158058028A>T , CM000666.1:g.158058028A>T	GRCh37
NC_000004.10:g.158277478A>T	NCBI36
NG_015823.1:g.65752A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264428.9:c.600A>T MANE Select	ENSP00000264428.4:p.Gln200His
ENST00000264428.8:c.600A>T	ENSP00000264428.4:p.Gln200His
ENST00000506411.5:c.*520A>T	ENSP00000422039.1:n.*520A>T
ENST00000509282.1:c.600A>T	ENSP00000427186.1:p.Gln200His
ENST00000510970.1:n.407A>T
ENST00000512619.5:c.123-33556A>T	ENSP00000425433.1:n.123-33556A>T
ENST00000541722.5:c.600A>T	ENSP00000441873.1:p.Gln200His
NM_000824.4:c.600A>T	NP_000815.1:p.Gln200His
NM_001166060.1:c.600A>T	NP_001159532.1:p.Gln200His
NM_001166061.1:c.600A>T	NP_001159533.1:p.Gln200His
XM_011531876.1:c.306A>T	XP_011530178.1:p.Gln102His
XM_017008034.1:c.306A>T	XP_016863523.1:p.Gln102His
XM_017008035.2:c.600A>T	XP_016863524.1:p.Gln200His
XR_001741207.2:n.781A>T
XR_002959723.1:n.781A>T
NM_000824.5:c.600A>T MANE Select	NP_000815.1:p.Gln200His
NM_001166060.2:c.600A>T	NP_001159532.1:p.Gln200His
NM_001166061.2:c.600A>T	NP_001159533.1:p.Gln200His