Canonical Allele Identifier: CA358642825
Gene: GLRB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.157136817C>A , CM000666.2:g.157136817C>A GRCh38
NC_000004.11:g.158057969C>A , CM000666.1:g.158057969C>A GRCh37
NC_000004.10:g.158277419C>A NCBI36
NG_015823.1:g.65693C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264428.9:c.541C>A MANE Select ENSP00000264428.4:p.Leu181Ile
ENST00000264428.8:c.541C>A ENSP00000264428.4:p.Leu181Ile
ENST00000506411.5:c.*461C>A ENSP00000422039.1:n.*461C>A
ENST00000509282.1:c.541C>A ENSP00000427186.1:p.Leu181Ile
ENST00000510970.1:n.348C>A
ENST00000512619.5:c.123-33615C>A ENSP00000425433.1:n.123-33615C>A
ENST00000541722.5:c.541C>A ENSP00000441873.1:p.Leu181Ile
NM_000824.4:c.541C>A NP_000815.1:p.Leu181Ile
NM_001166060.1:c.541C>A NP_001159532.1:p.Leu181Ile
NM_001166061.1:c.541C>A NP_001159533.1:p.Leu181Ile
XM_011531876.1:c.247C>A XP_011530178.1:p.Leu83Ile
XM_017008034.1:c.247C>A XP_016863523.1:p.Leu83Ile
XM_017008035.2:c.541C>A XP_016863524.1:p.Leu181Ile
XR_001741207.2:n.722C>A
XR_002959723.1:n.722C>A
NM_000824.5:c.541C>A MANE Select NP_000815.1:p.Leu181Ile
NM_001166060.2:c.541C>A NP_001159532.1:p.Leu181Ile
NM_001166061.2:c.541C>A NP_001159533.1:p.Leu181Ile