Canonical Allele Identifier: CA2173102565

Gene: TGM5

Linked Data

• dbSNP Id: rs2042712900
• gnomAD v4: 15-43252709-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43252709A>T , CM000677.2:g.43252709A>T	GRCh38
NC_000015.9:g.43544907A>T , CM000677.1:g.43544907A>T	GRCh37
NC_000015.8:g.41332199A>T	NCBI36
NG_016124.1:g.19149T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220420.10:c.862+50T>A MANE Select	ENSP00000220420.5:n.862+50T>A
ENST00000635871.1:n.331+50T>A
ENST00000220420.9:c.862+50T>A	ENSP00000220420.5:n.862+50T>A
ENST00000349114.8:c.616+50T>A	ENSP00000220419.8:n.616+50T>A
ENST00000610827.4:c.859+50T>A	ENSP00000479732.1:n.859+50T>A
ENST00000611276.4:c.613+50T>A	ENSP00000482542.1:n.613+50T>A
ENST00000622115.1:c.865+50T>A	ENSP00000479638.1:n.865+50T>A
NM_004245.3:c.616+50T>A	NP_004236.1:n.616+50T>A
NM_201631.3:c.862+50T>A	NP_963925.2:n.862+50T>A
XM_011522229.1:c.862+50T>A	XP_011520531.1:n.862+50T>A
XR_931948.1:n.1036+50T>A
NM_004245.4:c.616+50T>A	NP_004236.1:n.616+50T>A
NM_201631.4:c.862+50T>A MANE Select	NP_963925.2:n.862+50T>A