Canonical Allele Identifier: CA392100916

Gene: TGM5

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220420.10:c.629C>G MANE Select	ENSP00000220420.5:p.Thr210Arg
ENST00000635871.1:n.98C>G
ENST00000220420.9:c.629C>G	ENSP00000220420.5:p.Thr210Arg
ENST00000349114.8:c.383C>G	ENSP00000220419.8:p.Thr128Arg
ENST00000610827.4:c.626C>G	ENSP00000479732.1:p.Thr209Arg
ENST00000611276.4:c.380C>G	ENSP00000482542.1:p.Thr127Arg
ENST00000622115.1:c.632C>G	ENSP00000479638.1:p.Thr211Arg
NM_004245.3:c.383C>G	NP_004236.1:p.Thr128Arg
NM_201631.3:c.629C>G	NP_963925.2:p.Thr210Arg
XM_011522229.1:c.629C>G	XP_011520531.1:p.Thr210Arg
XR_931948.1:n.803C>G
NM_004245.4:c.383C>G	NP_004236.1:p.Thr128Arg
NM_201631.4:c.629C>G MANE Select	NP_963925.2:p.Thr210Arg