Canonical Allele Identifier: CA392099018

Gene: TGM5

Linked Data

• MyVariant Identifiers: chr15:g.43544995T>C (hg19) ; chr15:g.43252797T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43252797T>C , CM000677.2:g.43252797T>C	GRCh38
NC_000015.9:g.43544995T>C , CM000677.1:g.43544995T>C	GRCh37
NC_000015.8:g.41332287T>C	NCBI36
NG_016124.1:g.19061A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220420.10:c.824A>G MANE Select	ENSP00000220420.5:p.Tyr275Cys
ENST00000635871.1:n.293A>G
ENST00000220420.9:c.824A>G	ENSP00000220420.5:p.Tyr275Cys
ENST00000349114.8:c.578A>G	ENSP00000220419.8:p.Tyr193Cys
ENST00000610827.4:c.821A>G	ENSP00000479732.1:p.Tyr274Cys
ENST00000611276.4:c.575A>G	ENSP00000482542.1:p.Tyr192Cys
ENST00000622115.1:c.827A>G	ENSP00000479638.1:p.Tyr276Cys
NM_004245.3:c.578A>G	NP_004236.1:p.Tyr193Cys
NM_201631.3:c.824A>G	NP_963925.2:p.Tyr275Cys
XM_011522229.1:c.824A>G	XP_011520531.1:p.Tyr275Cys
XR_931948.1:n.998A>G
NM_004245.4:c.578A>G	NP_004236.1:p.Tyr193Cys
NM_201631.4:c.824A>G MANE Select	NP_963925.2:p.Tyr275Cys