Canonical Allele Identifier: CA392098986

Gene: TGM5

Linked Data

• MyVariant Identifiers: chr15:g.43544989T>C (hg19) ; chr15:g.43252791T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43252791T>C , CM000677.2:g.43252791T>C	GRCh38
NC_000015.9:g.43544989T>C , CM000677.1:g.43544989T>C	GRCh37
NC_000015.8:g.41332281T>C	NCBI36
NG_016124.1:g.19067A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220420.10:c.830A>G MANE Select	ENSP00000220420.5:p.Gln277Arg
ENST00000635871.1:n.299A>G
ENST00000220420.9:c.830A>G	ENSP00000220420.5:p.Gln277Arg
ENST00000349114.8:c.584A>G	ENSP00000220419.8:p.Gln195Arg
ENST00000610827.4:c.827A>G	ENSP00000479732.1:p.Gln276Arg
ENST00000611276.4:c.581A>G	ENSP00000482542.1:p.Gln194Arg
ENST00000622115.1:c.833A>G	ENSP00000479638.1:p.Gln278Arg
NM_004245.3:c.584A>G	NP_004236.1:p.Gln195Arg
NM_201631.3:c.830A>G	NP_963925.2:p.Gln277Arg
XM_011522229.1:c.830A>G	XP_011520531.1:p.Gln277Arg
XR_931948.1:n.1004A>G
NM_004245.4:c.584A>G	NP_004236.1:p.Gln195Arg
NM_201631.4:c.830A>G MANE Select	NP_963925.2:p.Gln277Arg