Canonical Allele Identifier: CA392098834
Gene: TGM5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43252766C>A , CM000677.2:g.43252766C>A GRCh38
NC_000015.9:g.43544964C>A , CM000677.1:g.43544964C>A GRCh37
NC_000015.8:g.41332256C>A NCBI36
NG_016124.1:g.19092G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000220420.10:c.855G>T MANE Select ENSP00000220420.5:p.Met285Ile
ENST00000635871.1:n.324G>T
ENST00000220420.9:c.855G>T ENSP00000220420.5:p.Met285Ile
ENST00000349114.8:c.609G>T ENSP00000220419.8:p.Met203Ile
ENST00000610827.4:c.852G>T ENSP00000479732.1:p.Met284Ile
ENST00000611276.4:c.606G>T ENSP00000482542.1:p.Met202Ile
ENST00000622115.1:c.858G>T ENSP00000479638.1:p.Met286Ile
NM_004245.3:c.609G>T NP_004236.1:p.Met203Ile
NM_201631.3:c.855G>T NP_963925.2:p.Met285Ile
XM_011522229.1:c.855G>T XP_011520531.1:p.Met285Ile
XR_931948.1:n.1029G>T
NM_004245.4:c.609G>T NP_004236.1:p.Met203Ile
NM_201631.4:c.855G>T MANE Select NP_963925.2:p.Met285Ile