Canonical Allele Identifier: CA2173102562

Gene: TGM5

Linked Data

• dbSNP Id: rs1596447883

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43252707A>G , CM000677.2:g.43252707A>G	GRCh38
NC_000015.9:g.43544905A>G , CM000677.1:g.43544905A>G	GRCh37
NC_000015.8:g.41332197A>G	NCBI36
NG_016124.1:g.19151T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220420.10:c.862+52T>C MANE Select	ENSP00000220420.5:n.862+52T>C
ENST00000635871.1:n.331+52T>C
ENST00000220420.9:c.862+52T>C	ENSP00000220420.5:n.862+52T>C
ENST00000349114.8:c.616+52T>C	ENSP00000220419.8:n.616+52T>C
ENST00000610827.4:c.859+52T>C	ENSP00000479732.1:n.859+52T>C
ENST00000611276.4:c.613+52T>C	ENSP00000482542.1:n.613+52T>C
ENST00000622115.1:c.865+52T>C	ENSP00000479638.1:n.865+52T>C
NM_004245.3:c.616+52T>C	NP_004236.1:n.616+52T>C
NM_201631.3:c.862+52T>C	NP_963925.2:n.862+52T>C
XM_011522229.1:c.862+52T>C	XP_011520531.1:n.862+52T>C
XR_931948.1:n.1036+52T>C
NM_004245.4:c.616+52T>C	NP_004236.1:n.616+52T>C
NM_201631.4:c.862+52T>C MANE Select	NP_963925.2:n.862+52T>C