Canonical Allele Identifier: CA358642916
Gene: GLRB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.157136853G>C , CM000666.2:g.157136853G>C GRCh38
NC_000004.11:g.158058005G>C , CM000666.1:g.158058005G>C GRCh37
NC_000004.10:g.158277455G>C NCBI36
NG_015823.1:g.65729G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264428.9:c.577G>C MANE Select ENSP00000264428.4:p.Asp193His
ENST00000264428.8:c.577G>C ENSP00000264428.4:p.Asp193His
ENST00000506411.5:c.*497G>C ENSP00000422039.1:n.*497G>C
ENST00000509282.1:c.577G>C ENSP00000427186.1:p.Asp193His
ENST00000510970.1:n.384G>C
ENST00000512619.5:c.123-33579G>C ENSP00000425433.1:n.123-33579G>C
ENST00000541722.5:c.577G>C ENSP00000441873.1:p.Asp193His
NM_000824.4:c.577G>C NP_000815.1:p.Asp193His
NM_001166060.1:c.577G>C NP_001159532.1:p.Asp193His
NM_001166061.1:c.577G>C NP_001159533.1:p.Asp193His
XM_011531876.1:c.283G>C XP_011530178.1:p.Asp95His
XM_017008034.1:c.283G>C XP_016863523.1:p.Asp95His
XM_017008035.2:c.577G>C XP_016863524.1:p.Asp193His
XR_001741207.2:n.758G>C
XR_002959723.1:n.758G>C
NM_000824.5:c.577G>C MANE Select NP_000815.1:p.Asp193His
NM_001166060.2:c.577G>C NP_001159532.1:p.Asp193His
NM_001166061.2:c.577G>C NP_001159533.1:p.Asp193His