Canonical Allele Identifier: CA392100876

Gene: TGM5

Linked Data

• MyVariant Identifiers: chr15:g.43545756T>A (hg19) ; chr15:g.43253558T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43253558T>A , CM000677.2:g.43253558T>A	GRCh38
NC_000015.9:g.43545756T>A , CM000677.1:g.43545756T>A	GRCh37
NC_000015.8:g.41333048T>A	NCBI36
NG_016124.1:g.18300A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000220420.10:c.632A>T MANE Select	ENSP00000220420.5:p.Asp211Val
ENST00000635871.1:n.101A>T
ENST00000220420.9:c.632A>T	ENSP00000220420.5:p.Asp211Val
ENST00000349114.8:c.386A>T	ENSP00000220419.8:p.Asp129Val
ENST00000610827.4:c.629A>T	ENSP00000479732.1:p.Asp210Val
ENST00000611276.4:c.383A>T	ENSP00000482542.1:p.Asp128Val
ENST00000622115.1:c.635A>T	ENSP00000479638.1:p.Asp212Val
NM_004245.3:c.386A>T	NP_004236.1:p.Asp129Val
NM_201631.3:c.632A>T	NP_963925.2:p.Asp211Val
XM_011522229.1:c.632A>T	XP_011520531.1:p.Asp211Val
XR_931948.1:n.806A>T
NM_004245.4:c.386A>T	NP_004236.1:p.Asp129Val
NM_201631.4:c.632A>T MANE Select	NP_963925.2:p.Asp211Val