Canonical Allele Identifier: CA392098920

Gene: TGM5

Linked Data

• MyVariant Identifiers: chr15:g.43544980A>T (hg19) ; chr15:g.43252782A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43252782A>T , CM000677.2:g.43252782A>T	GRCh38
NC_000015.9:g.43544980A>T , CM000677.1:g.43544980A>T	GRCh37
NC_000015.8:g.41332272A>T	NCBI36
NG_016124.1:g.19076T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220420.10:c.839T>A MANE Select	ENSP00000220420.5:p.Val280Asp
ENST00000635871.1:n.308T>A
ENST00000220420.9:c.839T>A	ENSP00000220420.5:p.Val280Asp
ENST00000349114.8:c.593T>A	ENSP00000220419.8:p.Val198Asp
ENST00000610827.4:c.836T>A	ENSP00000479732.1:p.Val279Asp
ENST00000611276.4:c.590T>A	ENSP00000482542.1:p.Val197Asp
ENST00000622115.1:c.842T>A	ENSP00000479638.1:p.Val281Asp
NM_004245.3:c.593T>A	NP_004236.1:p.Val198Asp
NM_201631.3:c.839T>A	NP_963925.2:p.Val280Asp
XM_011522229.1:c.839T>A	XP_011520531.1:p.Val280Asp
XR_931948.1:n.1013T>A
NM_004245.4:c.593T>A	NP_004236.1:p.Val198Asp
NM_201631.4:c.839T>A MANE Select	NP_963925.2:p.Val280Asp