Canonical Allele Identifier: CA392100049

Gene: TGM5

Linked Data

• MyVariant Identifiers: chr15:g.43545126G>C (hg19) ; chr15:g.43252928G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43252928G>C , CM000677.2:g.43252928G>C	GRCh38
NC_000015.9:g.43545126G>C , CM000677.1:g.43545126G>C	GRCh37
NC_000015.8:g.41332418G>C	NCBI36
NG_016124.1:g.18930C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220420.10:c.693C>G MANE Select	ENSP00000220420.5:p.Ser231Arg
ENST00000635871.1:n.162C>G
ENST00000220420.9:c.693C>G	ENSP00000220420.5:p.Ser231Arg
ENST00000349114.8:c.447C>G	ENSP00000220419.8:p.Ser149Arg
ENST00000610827.4:c.690C>G	ENSP00000479732.1:p.Ser230Arg
ENST00000611276.4:c.444C>G	ENSP00000482542.1:p.Ser148Arg
ENST00000622115.1:c.696C>G	ENSP00000479638.1:p.Ser232Arg
NM_004245.3:c.447C>G	NP_004236.1:p.Ser149Arg
NM_201631.3:c.693C>G	NP_963925.2:p.Ser231Arg
XM_011522229.1:c.693C>G	XP_011520531.1:p.Ser231Arg
XR_931948.1:n.867C>G
NM_004245.4:c.447C>G	NP_004236.1:p.Ser149Arg
NM_201631.4:c.693C>G MANE Select	NP_963925.2:p.Ser231Arg