Canonical Allele Identifier: CA392101149

Gene: TGM5

Linked Data

• MyVariant Identifiers: chr15:g.43545783A>T (hg19) ; chr15:g.43253585A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43253585A>T , CM000677.2:g.43253585A>T	GRCh38
NC_000015.9:g.43545783A>T , CM000677.1:g.43545783A>T	GRCh37
NC_000015.8:g.41333075A>T	NCBI36
NG_016124.1:g.18273T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220420.10:c.605T>A MANE Select	ENSP00000220420.5:p.Leu202Gln
ENST00000635871.1:n.74T>A
ENST00000220420.9:c.605T>A	ENSP00000220420.5:p.Leu202Gln
ENST00000349114.8:c.359T>A	ENSP00000220419.8:p.Leu120Gln
ENST00000610827.4:c.602T>A	ENSP00000479732.1:p.Leu201Gln
ENST00000611276.4:c.356T>A	ENSP00000482542.1:p.Leu119Gln
ENST00000622115.1:c.608T>A	ENSP00000479638.1:p.Leu203Gln
NM_004245.3:c.359T>A	NP_004236.1:p.Leu120Gln
NM_201631.3:c.605T>A	NP_963925.2:p.Leu202Gln
XM_011522229.1:c.605T>A	XP_011520531.1:p.Leu202Gln
XR_931948.1:n.779T>A
NM_004245.4:c.359T>A	NP_004236.1:p.Leu120Gln
NM_201631.4:c.605T>A MANE Select	NP_963925.2:p.Leu202Gln