Canonical Allele Identifier: CA392101334

Gene: TGM5

Linked Data

• MyVariant Identifiers: chr15:g.43545805G>C (hg19) ; chr15:g.43253607G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43253607G>C , CM000677.2:g.43253607G>C	GRCh38
NC_000015.9:g.43545805G>C , CM000677.1:g.43545805G>C	GRCh37
NC_000015.8:g.41333097G>C	NCBI36
NG_016124.1:g.18251C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220420.10:c.583C>G MANE Select	ENSP00000220420.5:p.Leu195Val
ENST00000635871.1:n.52C>G
ENST00000220420.9:c.583C>G	ENSP00000220420.5:p.Leu195Val
ENST00000349114.8:c.337C>G	ENSP00000220419.8:p.Leu113Val
ENST00000610827.4:c.580C>G	ENSP00000479732.1:p.Leu194Val
ENST00000611276.4:c.334C>G	ENSP00000482542.1:p.Leu112Val
ENST00000622115.1:c.586C>G	ENSP00000479638.1:p.Leu196Val
NM_004245.3:c.337C>G	NP_004236.1:p.Leu113Val
NM_201631.3:c.583C>G	NP_963925.2:p.Leu195Val
XM_011522229.1:c.583C>G	XP_011520531.1:p.Leu195Val
XR_931948.1:n.757C>G
NM_004245.4:c.337C>G	NP_004236.1:p.Leu113Val
NM_201631.4:c.583C>G MANE Select	NP_963925.2:p.Leu195Val