Canonical Allele Identifier: CA392101355

Gene: TGM5

Linked Data

• ClinVar Variation Id: 3176762
• ClinVar RCV Id: RCV004474622
• dbSNP Id: rs1200759709
• gnomAD v2: 15-43545808-A-C
• gnomAD v4: 15-43253610-A-C
• MyVariant Identifiers: chr15:g.43545808A>C (hg19) ; chr15:g.43253610A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43253610A>C , CM000677.2:g.43253610A>C	GRCh38
NC_000015.9:g.43545808A>C , CM000677.1:g.43545808A>C	GRCh37
NC_000015.8:g.41333100A>C	NCBI36
NG_016124.1:g.18248T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220420.10:c.580T>G MANE Select	ENSP00000220420.5:p.Cys194Gly
ENST00000635871.1:n.49T>G
ENST00000220420.9:c.580T>G	ENSP00000220420.5:p.Cys194Gly
ENST00000349114.8:c.334T>G	ENSP00000220419.8:p.Cys112Gly
ENST00000610827.4:c.577T>G	ENSP00000479732.1:p.Cys193Gly
ENST00000611276.4:c.331T>G	ENSP00000482542.1:p.Cys111Gly
ENST00000622115.1:c.583T>G	ENSP00000479638.1:p.Cys195Gly
NM_004245.3:c.334T>G	NP_004236.1:p.Cys112Gly
NM_201631.3:c.580T>G	NP_963925.2:p.Cys194Gly
XM_011522229.1:c.580T>G	XP_011520531.1:p.Cys194Gly
XR_931948.1:n.754T>G
NM_004245.4:c.334T>G	NP_004236.1:p.Cys112Gly
NM_201631.4:c.580T>G MANE Select	NP_963925.2:p.Cys194Gly