Canonical Allele Identifier: CA358642947
Gene: GLRB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.157136860A>C , CM000666.2:g.157136860A>C GRCh38
NC_000004.11:g.158058012A>C , CM000666.1:g.158058012A>C GRCh37
NC_000004.10:g.158277462A>C NCBI36
NG_015823.1:g.65736A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264428.9:c.584A>C MANE Select ENSP00000264428.4:p.Gln195Pro
ENST00000264428.8:c.584A>C ENSP00000264428.4:p.Gln195Pro
ENST00000506411.5:c.*504A>C ENSP00000422039.1:n.*504A>C
ENST00000509282.1:c.584A>C ENSP00000427186.1:p.Gln195Pro
ENST00000510970.1:n.391A>C
ENST00000512619.5:c.123-33572A>C ENSP00000425433.1:n.123-33572A>C
ENST00000541722.5:c.584A>C ENSP00000441873.1:p.Gln195Pro
NM_000824.4:c.584A>C NP_000815.1:p.Gln195Pro
NM_001166060.1:c.584A>C NP_001159532.1:p.Gln195Pro
NM_001166061.1:c.584A>C NP_001159533.1:p.Gln195Pro
XM_011531876.1:c.290A>C XP_011530178.1:p.Gln97Pro
XM_017008034.1:c.290A>C XP_016863523.1:p.Gln97Pro
XM_017008035.2:c.584A>C XP_016863524.1:p.Gln195Pro
XR_001741207.2:n.765A>C
XR_002959723.1:n.765A>C
NM_000824.5:c.584A>C MANE Select NP_000815.1:p.Gln195Pro
NM_001166060.2:c.584A>C NP_001159532.1:p.Gln195Pro
NM_001166061.2:c.584A>C NP_001159533.1:p.Gln195Pro