Canonical Allele Identifier: CA655910543

Gene: TGM5

Linked Data

• gnomAD v4: 15-43252954-A-G
• COSMIC: COSN24313623

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43252954A>G , CM000677.2:g.43252954A>G	GRCh38
NC_000015.9:g.43545152A>G , CM000677.1:g.43545152A>G	GRCh37
NC_000015.8:g.41332444A>G	NCBI36
NG_016124.1:g.18904T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220420.10:c.685-18T>C MANE Select	ENSP00000220420.5:n.685-18T>C
ENST00000635871.1:n.154-18T>C
ENST00000220420.9:c.685-18T>C	ENSP00000220420.5:n.685-18T>C
ENST00000349114.8:c.439-18T>C	ENSP00000220419.8:n.439-18T>C
ENST00000610827.4:c.682-18T>C	ENSP00000479732.1:n.682-18T>C
ENST00000611276.4:c.436-18T>C	ENSP00000482542.1:n.436-18T>C
ENST00000622115.1:c.688-18T>C	ENSP00000479638.1:n.688-18T>C
NM_004245.3:c.439-18T>C	NP_004236.1:n.439-18T>C
NM_201631.3:c.685-18T>C	NP_963925.2:n.685-18T>C
XM_011522229.1:c.685-18T>C	XP_011520531.1:n.685-18T>C
XR_931948.1:n.859-18T>C
NM_004245.4:c.439-18T>C	NP_004236.1:n.439-18T>C
NM_201631.4:c.685-18T>C MANE Select	NP_963925.2:n.685-18T>C