Canonical Allele Identifier: CA2739270341
Gene: GLRB HGNC NCBI

Linked Data

ClinVar Variation Id: 2852772
ClinVar RCV Id: RCV003646608

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.157136792T>G , CM000666.2:g.157136792T>G GRCh38
NC_000004.11:g.158057944T>G , CM000666.1:g.158057944T>G GRCh37
NC_000004.10:g.158277394T>G NCBI36
NG_015823.1:g.65668T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264428.9:c.528-12T>G MANE Select ENSP00000264428.4:n.528-12T>G
ENST00000264428.8:c.528-12T>G ENSP00000264428.4:n.528-12T>G
ENST00000506411.5:c.*448-12T>G ENSP00000422039.1:n.*448-12T>G
ENST00000509282.1:c.528-12T>G ENSP00000427186.1:n.528-12T>G
ENST00000510970.1:n.335-12T>G
ENST00000512619.5:c.123-33640T>G ENSP00000425433.1:n.123-33640T>G
ENST00000541722.5:c.528-12T>G ENSP00000441873.1:n.528-12T>G
NM_000824.4:c.528-12T>G NP_000815.1:n.528-12T>G
NM_001166060.1:c.528-12T>G NP_001159532.1:n.528-12T>G
NM_001166061.1:c.528-12T>G NP_001159533.1:n.528-12T>G
XM_011531876.1:c.234-12T>G XP_011530178.1:n.234-12T>G
XM_017008034.1:c.234-12T>G XP_016863523.1:n.234-12T>G
XM_017008035.2:c.528-12T>G XP_016863524.1:n.528-12T>G
XR_001741207.2:n.709-12T>G
XR_002959723.1:n.709-12T>G
NM_000824.5:c.528-12T>G MANE Select NP_000815.1:n.528-12T>G
NM_001166060.2:c.528-12T>G NP_001159532.1:n.528-12T>G
NM_001166061.2:c.528-12T>G NP_001159533.1:n.528-12T>G