Canonical Allele Identifier: CA392100869

Gene: TGM5

Linked Data

• gnomAD v4: 15-43253557-G-T
• MyVariant Identifiers: chr15:g.43545755G>T (hg19) ; chr15:g.43253557G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43253557G>T , CM000677.2:g.43253557G>T	GRCh38
NC_000015.9:g.43545755G>T , CM000677.1:g.43545755G>T	GRCh37
NC_000015.8:g.41333047G>T	NCBI36
NG_016124.1:g.18301C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000220420.10:c.633C>A MANE Select	ENSP00000220420.5:p.Asp211Glu
ENST00000635871.1:n.102C>A
ENST00000220420.9:c.633C>A	ENSP00000220420.5:p.Asp211Glu
ENST00000349114.8:c.387C>A	ENSP00000220419.8:p.Asp129Glu
ENST00000610827.4:c.630C>A	ENSP00000479732.1:p.Asp210Glu
ENST00000611276.4:c.384C>A	ENSP00000482542.1:p.Asp128Glu
ENST00000622115.1:c.636C>A	ENSP00000479638.1:p.Asp212Glu
NM_004245.3:c.387C>A	NP_004236.1:p.Asp129Glu
NM_201631.3:c.633C>A	NP_963925.2:p.Asp211Glu
XM_011522229.1:c.633C>A	XP_011520531.1:p.Asp211Glu
XR_931948.1:n.807C>A
NM_004245.4:c.387C>A	NP_004236.1:p.Asp129Glu
NM_201631.4:c.633C>A MANE Select	NP_963925.2:p.Asp211Glu