Canonical Allele Identifier: CA7521218

Gene: TGM5

Linked Data

• dbSNP Id: rs74487005
• ExAC: 15:43545061 G / T
• gnomAD v2: 15-43545061-G-T
• gnomAD v3: 15-43252863-G-T
• gnomAD v4: 15-43252863-G-T
• MyVariant Identifiers: chr15:g.43545061G>T (hg19) ; chr15:g.43252863G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43252863G>T , CM000677.2:g.43252863G>T	GRCh38
NC_000015.9:g.43545061G>T , CM000677.1:g.43545061G>T	GRCh37
NC_000015.8:g.41332353G>T	NCBI36
NG_016124.1:g.18995C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220420.10:c.758C>A MANE Select	ENSP00000220420.5:p.Ala253Glu
ENST00000635871.1:n.227C>A
ENST00000220420.9:c.758C>A	ENSP00000220420.5:p.Ala253Glu
ENST00000349114.8:c.512C>A	ENSP00000220419.8:p.Ala171Glu
ENST00000610827.4:c.755C>A	ENSP00000479732.1:p.Ala252Glu
ENST00000611276.4:c.509C>A	ENSP00000482542.1:p.Ala170Glu
ENST00000622115.1:c.761C>A	ENSP00000479638.1:p.Ala254Glu
NM_004245.3:c.512C>A	NP_004236.1:p.Ala171Glu
NM_201631.3:c.758C>A	NP_963925.2:p.Ala253Glu
XM_011522229.1:c.758C>A	XP_011520531.1:p.Ala253Glu
XR_931948.1:n.932C>A
NM_004245.4:c.512C>A	NP_004236.1:p.Ala171Glu
NM_201631.4:c.758C>A MANE Select	NP_963925.2:p.Ala253Glu