Canonical Allele Identifier: CA392099519

Gene: TGM5

Linked Data

• MyVariant Identifiers: chr15:g.43545070G>T (hg19) ; chr15:g.43252872G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43252872G>T , CM000677.2:g.43252872G>T	GRCh38
NC_000015.9:g.43545070G>T , CM000677.1:g.43545070G>T	GRCh37
NC_000015.8:g.41332362G>T	NCBI36
NG_016124.1:g.18986C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220420.10:c.749C>A MANE Select	ENSP00000220420.5:p.Ala250Asp
ENST00000635871.1:n.218C>A
ENST00000220420.9:c.749C>A	ENSP00000220420.5:p.Ala250Asp
ENST00000349114.8:c.503C>A	ENSP00000220419.8:p.Ala168Asp
ENST00000610827.4:c.746C>A	ENSP00000479732.1:p.Ala249Asp
ENST00000611276.4:c.500C>A	ENSP00000482542.1:p.Ala167Asp
ENST00000622115.1:c.752C>A	ENSP00000479638.1:p.Ala251Asp
NM_004245.3:c.503C>A	NP_004236.1:p.Ala168Asp
NM_201631.3:c.749C>A	NP_963925.2:p.Ala250Asp
XM_011522229.1:c.749C>A	XP_011520531.1:p.Ala250Asp
XR_931948.1:n.923C>A
NM_004245.4:c.503C>A	NP_004236.1:p.Ala168Asp
NM_201631.4:c.749C>A MANE Select	NP_963925.2:p.Ala250Asp