Canonical Allele Identifier: CA358642889
Gene: GLRB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.157136846T>G , CM000666.2:g.157136846T>G GRCh38
NC_000004.11:g.158057998T>G , CM000666.1:g.158057998T>G GRCh37
NC_000004.10:g.158277448T>G NCBI36
NG_015823.1:g.65722T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264428.9:c.570T>G MANE Select ENSP00000264428.4:p.Phe190Leu
ENST00000264428.8:c.570T>G ENSP00000264428.4:p.Phe190Leu
ENST00000506411.5:c.*490T>G ENSP00000422039.1:n.*490T>G
ENST00000509282.1:c.570T>G ENSP00000427186.1:p.Phe190Leu
ENST00000510970.1:n.377T>G
ENST00000512619.5:c.123-33586T>G ENSP00000425433.1:n.123-33586T>G
ENST00000541722.5:c.570T>G ENSP00000441873.1:p.Phe190Leu
NM_000824.4:c.570T>G NP_000815.1:p.Phe190Leu
NM_001166060.1:c.570T>G NP_001159532.1:p.Phe190Leu
NM_001166061.1:c.570T>G NP_001159533.1:p.Phe190Leu
XM_011531876.1:c.276T>G XP_011530178.1:p.Phe92Leu
XM_017008034.1:c.276T>G XP_016863523.1:p.Phe92Leu
XM_017008035.2:c.570T>G XP_016863524.1:p.Phe190Leu
XR_001741207.2:n.751T>G
XR_002959723.1:n.751T>G
NM_000824.5:c.570T>G MANE Select NP_000815.1:p.Phe190Leu
NM_001166060.2:c.570T>G NP_001159532.1:p.Phe190Leu
NM_001166061.2:c.570T>G NP_001159533.1:p.Phe190Leu