Canonical Allele Identifier: CA392099271

Gene: TGM5

Linked Data

• MyVariant Identifiers: chr15:g.43545038T>G (hg19) ; chr15:g.43252840T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43252840T>G , CM000677.2:g.43252840T>G	GRCh38
NC_000015.9:g.43545038T>G , CM000677.1:g.43545038T>G	GRCh37
NC_000015.8:g.41332330T>G	NCBI36
NG_016124.1:g.19018A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220420.10:c.781A>C MANE Select	ENSP00000220420.5:p.Ile261Leu
ENST00000635871.1:n.250A>C
ENST00000220420.9:c.781A>C	ENSP00000220420.5:p.Ile261Leu
ENST00000349114.8:c.535A>C	ENSP00000220419.8:p.Ile179Leu
ENST00000610827.4:c.778A>C	ENSP00000479732.1:p.Ile260Leu
ENST00000611276.4:c.532A>C	ENSP00000482542.1:p.Ile178Leu
ENST00000622115.1:c.784A>C	ENSP00000479638.1:p.Ile262Leu
NM_004245.3:c.535A>C	NP_004236.1:p.Ile179Leu
NM_201631.3:c.781A>C	NP_963925.2:p.Ile261Leu
XM_011522229.1:c.781A>C	XP_011520531.1:p.Ile261Leu
XR_931948.1:n.955A>C
NM_004245.4:c.535A>C	NP_004236.1:p.Ile179Leu
NM_201631.4:c.781A>C MANE Select	NP_963925.2:p.Ile261Leu