Canonical Allele Identifier: CA490131724

Gene: TGM5

Linked Data

• MyVariant Identifiers: chr15:g.43545749A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43253551A>T , CM000677.2:g.43253551A>T	GRCh38
NC_000015.9:g.43545749A>T , CM000677.1:g.43545749A>T	GRCh37
NC_000015.8:g.41333041A>T	NCBI36
NG_016124.1:g.18307T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000220420.10:c.639T>A MANE Select	ENSP00000220420.5:p.Ala213=
ENST00000635871.1:n.108T>A
ENST00000220420.9:c.639T>A	ENSP00000220420.5:p.Ala213=
ENST00000349114.8:c.393T>A	ENSP00000220419.8:p.Ala131=
ENST00000610827.4:c.636T>A	ENSP00000479732.1:p.Ala212=
ENST00000611276.4:c.390T>A	ENSP00000482542.1:p.Ala130=
ENST00000622115.1:c.642T>A	ENSP00000479638.1:p.Ala214=
NM_004245.3:c.393T>A	NP_004236.1:p.Ala131=
NM_201631.3:c.639T>A	NP_963925.2:p.Ala213=
XM_011522229.1:c.639T>A	XP_011520531.1:p.Ala213=
XR_931948.1:n.813T>A
NM_004245.4:c.393T>A	NP_004236.1:p.Ala131=
NM_201631.4:c.639T>A MANE Select	NP_963925.2:p.Ala213=