Canonical Allele Identifier: CA372247193
Gene: TG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.132873101A>T , CM000670.2:g.132873101A>T GRCh38
NC_000008.10:g.133885346A>T , CM000670.1:g.133885346A>T GRCh37
NC_000008.9:g.133954528A>T NCBI36
NG_015832.1:g.11142A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000220616.9:c.518A>T MANE Select ENSP00000220616.4:p.His173Leu
ENST00000220616.8:c.518A>T ENSP00000220616.4:p.His173Leu
ENST00000523901.1:c.*369A>T ENSP00000427871.1:n.*369A>T
NM_003235.4:c.518A>T NP_003226.4:p.His173Leu
XM_005251038.3:c.518A>T XP_005251095.1:p.His173Leu
XM_005251040.3:c.518A>T XP_005251097.1:p.His173Leu
XM_005251042.3:c.518A>T XP_005251099.1:p.His173Leu
XM_005251043.3:c.518A>T XP_005251100.1:p.His173Leu
XM_006716622.2:c.518A>T XP_006716685.1:p.His173Leu
XM_005251038.4:c.518A>T XP_005251095.1:p.His173Leu
XM_005251040.4:c.518A>T XP_005251097.1:p.His173Leu
XM_005251042.4:c.518A>T XP_005251099.1:p.His173Leu
XM_006716622.3:c.518A>T XP_006716685.1:p.His173Leu
XM_017013793.1:c.518A>T XP_016869282.1:p.His173Leu
XM_017013794.1:c.518A>T XP_016869283.1:p.His173Leu
XM_017013795.1:c.518A>T XP_016869284.1:p.His173Leu
XM_017013796.1:c.518A>T XP_016869285.1:p.His173Leu
XM_017013797.1:c.257A>T XP_016869286.1:p.His86Leu
XM_017013798.1:c.518A>T XP_016869287.1:p.His173Leu
XM_017013799.1:c.518A>T XP_016869288.1:p.His173Leu
XM_017013800.1:c.518A>T XP_016869289.1:p.His173Leu
NM_003235.5:c.518A>T MANE Select NP_003226.4:p.His173Leu