Canonical Allele Identifier: CA7521192

Gene: TGM5

Linked Data

• dbSNP Id: rs752160249
• ExAC: 15:43544984 A / G
• gnomAD v2: 15-43544984-A-G
• MyVariant Identifiers: chr15:g.43544984A>G (hg19) ; chr15:g.43252786A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43252786A>G , CM000677.2:g.43252786A>G	GRCh38
NC_000015.9:g.43544984A>G , CM000677.1:g.43544984A>G	GRCh37
NC_000015.8:g.41332276A>G	NCBI36
NG_016124.1:g.19072T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220420.10:c.835T>C MANE Select	ENSP00000220420.5:p.Trp279Arg
ENST00000635871.1:n.304T>C
ENST00000220420.9:c.835T>C	ENSP00000220420.5:p.Trp279Arg
ENST00000349114.8:c.589T>C	ENSP00000220419.8:p.Trp197Arg
ENST00000610827.4:c.832T>C	ENSP00000479732.1:p.Trp278Arg
ENST00000611276.4:c.586T>C	ENSP00000482542.1:p.Trp196Arg
ENST00000622115.1:c.838T>C	ENSP00000479638.1:p.Trp280Arg
NM_004245.3:c.589T>C	NP_004236.1:p.Trp197Arg
NM_201631.3:c.835T>C	NP_963925.2:p.Trp279Arg
XM_011522229.1:c.835T>C	XP_011520531.1:p.Trp279Arg
XR_931948.1:n.1009T>C
NM_004245.4:c.589T>C	NP_004236.1:p.Trp197Arg
NM_201631.4:c.835T>C MANE Select	NP_963925.2:p.Trp279Arg