Canonical Allele Identifier: CA392100892

Gene: TGM5

Linked Data

• MyVariant Identifiers: chr15:g.43545757C>G (hg19) ; chr15:g.43253559C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43253559C>G , CM000677.2:g.43253559C>G	GRCh38
NC_000015.9:g.43545757C>G , CM000677.1:g.43545757C>G	GRCh37
NC_000015.8:g.41333049C>G	NCBI36
NG_016124.1:g.18299G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000220420.10:c.631G>C MANE Select	ENSP00000220420.5:p.Asp211His
ENST00000635871.1:n.100G>C
ENST00000220420.9:c.631G>C	ENSP00000220420.5:p.Asp211His
ENST00000349114.8:c.385G>C	ENSP00000220419.8:p.Asp129His
ENST00000610827.4:c.628G>C	ENSP00000479732.1:p.Asp210His
ENST00000611276.4:c.382G>C	ENSP00000482542.1:p.Asp128His
ENST00000622115.1:c.634G>C	ENSP00000479638.1:p.Asp212His
NM_004245.3:c.385G>C	NP_004236.1:p.Asp129His
NM_201631.3:c.631G>C	NP_963925.2:p.Asp211His
XM_011522229.1:c.631G>C	XP_011520531.1:p.Asp211His
XR_931948.1:n.805G>C
NM_004245.4:c.385G>C	NP_004236.1:p.Asp129His
NM_201631.4:c.631G>C MANE Select	NP_963925.2:p.Asp211His