Canonical Allele Identifier: CA2628100777

Gene: TGM5

Linked Data

• gnomAD v4: 15-43252664-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43252664G>C , CM000677.2:g.43252664G>C	GRCh38
NC_000015.9:g.43544862G>C , CM000677.1:g.43544862G>C	GRCh37
NC_000015.8:g.41332154G>C	NCBI36
NG_016124.1:g.19194C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220420.10:c.862+95C>G MANE Select	ENSP00000220420.5:n.862+95C>G
ENST00000635871.1:n.331+95C>G
ENST00000220420.9:c.862+95C>G	ENSP00000220420.5:n.862+95C>G
ENST00000349114.8:c.616+95C>G	ENSP00000220419.8:n.616+95C>G
ENST00000610827.4:c.859+95C>G	ENSP00000479732.1:n.859+95C>G
ENST00000611276.4:c.613+95C>G	ENSP00000482542.1:n.613+95C>G
ENST00000622115.1:c.865+95C>G	ENSP00000479638.1:n.865+95C>G
NM_004245.3:c.616+95C>G	NP_004236.1:n.616+95C>G
NM_201631.3:c.862+95C>G	NP_963925.2:n.862+95C>G
XM_011522229.1:c.862+95C>G	XP_011520531.1:n.862+95C>G
XR_931948.1:n.1036+95C>G
NM_004245.4:c.616+95C>G	NP_004236.1:n.616+95C>G
NM_201631.4:c.862+95C>G MANE Select	NP_963925.2:n.862+95C>G