Canonical Allele Identifier: CA392099600
Gene: TGM5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43252882T>C , CM000677.2:g.43252882T>C GRCh38
NC_000015.9:g.43545080T>C , CM000677.1:g.43545080T>C GRCh37
NC_000015.8:g.41332372T>C NCBI36
NG_016124.1:g.18976A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000220420.10:c.739A>G MANE Select ENSP00000220420.5:p.Thr247Ala
ENST00000635871.1:n.208A>G
ENST00000220420.9:c.739A>G ENSP00000220420.5:p.Thr247Ala
ENST00000349114.8:c.493A>G ENSP00000220419.8:p.Thr165Ala
ENST00000610827.4:c.736A>G ENSP00000479732.1:p.Thr246Ala
ENST00000611276.4:c.490A>G ENSP00000482542.1:p.Thr164Ala
ENST00000622115.1:c.742A>G ENSP00000479638.1:p.Thr248Ala
NM_004245.3:c.493A>G NP_004236.1:p.Thr165Ala
NM_201631.3:c.739A>G NP_963925.2:p.Thr247Ala
XM_011522229.1:c.739A>G XP_011520531.1:p.Thr247Ala
XR_931948.1:n.913A>G
NM_004245.4:c.493A>G NP_004236.1:p.Thr165Ala
NM_201631.4:c.739A>G MANE Select NP_963925.2:p.Thr247Ala