Canonical Allele Identifier: CA392098912

Gene: TGM5

Linked Data

• MyVariant Identifiers: chr15:g.43544978A>C (hg19) ; chr15:g.43252780A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43252780A>C , CM000677.2:g.43252780A>C	GRCh38
NC_000015.9:g.43544978A>C , CM000677.1:g.43544978A>C	GRCh37
NC_000015.8:g.41332270A>C	NCBI36
NG_016124.1:g.19078T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220420.10:c.841T>G MANE Select	ENSP00000220420.5:p.Phe281Val
ENST00000635871.1:n.310T>G
ENST00000220420.9:c.841T>G	ENSP00000220420.5:p.Phe281Val
ENST00000349114.8:c.595T>G	ENSP00000220419.8:p.Phe199Val
ENST00000610827.4:c.838T>G	ENSP00000479732.1:p.Phe280Val
ENST00000611276.4:c.592T>G	ENSP00000482542.1:p.Phe198Val
ENST00000622115.1:c.844T>G	ENSP00000479638.1:p.Phe282Val
NM_004245.3:c.595T>G	NP_004236.1:p.Phe199Val
NM_201631.3:c.841T>G	NP_963925.2:p.Phe281Val
XM_011522229.1:c.841T>G	XP_011520531.1:p.Phe281Val
XR_931948.1:n.1015T>G
NM_004245.4:c.595T>G	NP_004236.1:p.Phe199Val
NM_201631.4:c.841T>G MANE Select	NP_963925.2:p.Phe281Val