Canonical Allele Identifier: CA358643030
Gene: GLRB HGNC NCBI

Linked Data

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