Canonical Allele Identifier: CA392098898
Gene: TGM5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43252778A>C , CM000677.2:g.43252778A>C GRCh38
NC_000015.9:g.43544976A>C , CM000677.1:g.43544976A>C GRCh37
NC_000015.8:g.41332268A>C NCBI36
NG_016124.1:g.19080T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000220420.10:c.843T>G MANE Select ENSP00000220420.5:p.Phe281Leu
ENST00000635871.1:n.312T>G
ENST00000220420.9:c.843T>G ENSP00000220420.5:p.Phe281Leu
ENST00000349114.8:c.597T>G ENSP00000220419.8:p.Phe199Leu
ENST00000610827.4:c.840T>G ENSP00000479732.1:p.Phe280Leu
ENST00000611276.4:c.594T>G ENSP00000482542.1:p.Phe198Leu
ENST00000622115.1:c.846T>G ENSP00000479638.1:p.Phe282Leu
NM_004245.3:c.597T>G NP_004236.1:p.Phe199Leu
NM_201631.3:c.843T>G NP_963925.2:p.Phe281Leu
XM_011522229.1:c.843T>G XP_011520531.1:p.Phe281Leu
XR_931948.1:n.1017T>G
NM_004245.4:c.597T>G NP_004236.1:p.Phe199Leu
NM_201631.4:c.843T>G MANE Select NP_963925.2:p.Phe281Leu