Canonical Allele Identifier: CA392100911

Gene: TGM5

Linked Data

• gnomAD v4: 15-43253561-G-A
• MyVariant Identifiers: chr15:g.43545759G>A (hg19) ; chr15:g.43253561G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43253561G>A , CM000677.2:g.43253561G>A	GRCh38
NC_000015.9:g.43545759G>A , CM000677.1:g.43545759G>A	GRCh37
NC_000015.8:g.41333051G>A	NCBI36
NG_016124.1:g.18297C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000220420.10:c.629C>T MANE Select	ENSP00000220420.5:p.Thr210Ile
ENST00000635871.1:n.98C>T
ENST00000220420.9:c.629C>T	ENSP00000220420.5:p.Thr210Ile
ENST00000349114.8:c.383C>T	ENSP00000220419.8:p.Thr128Ile
ENST00000610827.4:c.626C>T	ENSP00000479732.1:p.Thr209Ile
ENST00000611276.4:c.380C>T	ENSP00000482542.1:p.Thr127Ile
ENST00000622115.1:c.632C>T	ENSP00000479638.1:p.Thr211Ile
NM_004245.3:c.383C>T	NP_004236.1:p.Thr128Ile
NM_201631.3:c.629C>T	NP_963925.2:p.Thr210Ile
XM_011522229.1:c.629C>T	XP_011520531.1:p.Thr210Ile
XR_931948.1:n.803C>T
NM_004245.4:c.383C>T	NP_004236.1:p.Thr128Ile
NM_201631.4:c.629C>T MANE Select	NP_963925.2:p.Thr210Ile