Canonical Allele Identifier: CA392099531

Gene: TGM5

Linked Data

• MyVariant Identifiers: chr15:g.43545071C>G (hg19) ; chr15:g.43252873C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43252873C>G , CM000677.2:g.43252873C>G	GRCh38
NC_000015.9:g.43545071C>G , CM000677.1:g.43545071C>G	GRCh37
NC_000015.8:g.41332363C>G	NCBI36
NG_016124.1:g.18985G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220420.10:c.748G>C MANE Select	ENSP00000220420.5:p.Ala250Pro
ENST00000635871.1:n.217G>C
ENST00000220420.9:c.748G>C	ENSP00000220420.5:p.Ala250Pro
ENST00000349114.8:c.502G>C	ENSP00000220419.8:p.Ala168Pro
ENST00000610827.4:c.745G>C	ENSP00000479732.1:p.Ala249Pro
ENST00000611276.4:c.499G>C	ENSP00000482542.1:p.Ala167Pro
ENST00000622115.1:c.751G>C	ENSP00000479638.1:p.Ala251Pro
NM_004245.3:c.502G>C	NP_004236.1:p.Ala168Pro
NM_201631.3:c.748G>C	NP_963925.2:p.Ala250Pro
XM_011522229.1:c.748G>C	XP_011520531.1:p.Ala250Pro
XR_931948.1:n.922G>C
NM_004245.4:c.502G>C	NP_004236.1:p.Ala168Pro
NM_201631.4:c.748G>C MANE Select	NP_963925.2:p.Ala250Pro