Canonical Allele Identifier: CA2580071625
Community Standard Title: NM_000824.5(GLRB):c.1198-5C>T
Gene: GLRB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.157170427C>T , CM000666.2:g.157170427C>T GRCh38
NC_000004.11:g.158091579C>T , CM000666.1:g.158091579C>T GRCh37
NC_000004.10:g.158311029C>T NCBI36
NG_015823.1:g.99303C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000824.5:c.1198-5C>T MANE Select NP_000815.1:n.1198-5C>T
ENST00000264428.9:c.1198-5C>T MANE Select ENSP00000264428.4:n.1198-5C>T
NM_000824.4:c.1198-5C>T NP_000815.1:n.1198-5C>T
NM_001166060.1:c.1198-5C>T NP_001159532.1:n.1198-5C>T
NM_001166060.2:c.1198-5C>T NP_001159532.1:n.1198-5C>T
NM_001166061.1:c.905-5C>T NP_001159533.1:n.905-5C>T
NM_001166061.2:c.905-5C>T NP_001159533.1:n.905-5C>T
ENST00000264428.8:c.1198-5C>T ENSP00000264428.4:n.1198-5C>T
ENST00000509282.1:c.1198-5C>T ENSP00000427186.1:n.1198-5C>T
ENST00000512619.5:c.123-5C>T ENSP00000425433.1:n.123-5C>T
ENST00000541722.5:c.905-5C>T ENSP00000441873.1:n.905-5C>T
XM_011531876.1:c.904-5C>T XP_011530178.1:n.904-5C>T
XM_017008034.1:c.904-5C>T XP_016863523.1:n.904-5C>T
XM_017008035.2:c.905-5C>T XP_016863524.1:n.905-5C>T
XR_001741207.2:n.2650-5C>T
XR_002959723.1:n.3900-5C>T