Canonical Allele Identifier: CA392099025

Gene: TGM5

Linked Data

• MyVariant Identifiers: chr15:g.43544996A>G (hg19) ; chr15:g.43252798A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43252798A>G , CM000677.2:g.43252798A>G	GRCh38
NC_000015.9:g.43544996A>G , CM000677.1:g.43544996A>G	GRCh37
NC_000015.8:g.41332288A>G	NCBI36
NG_016124.1:g.19060T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220420.10:c.823T>C MANE Select	ENSP00000220420.5:p.Tyr275His
ENST00000635871.1:n.292T>C
ENST00000220420.9:c.823T>C	ENSP00000220420.5:p.Tyr275His
ENST00000349114.8:c.577T>C	ENSP00000220419.8:p.Tyr193His
ENST00000610827.4:c.820T>C	ENSP00000479732.1:p.Tyr274His
ENST00000611276.4:c.574T>C	ENSP00000482542.1:p.Tyr192His
ENST00000622115.1:c.826T>C	ENSP00000479638.1:p.Tyr276His
NM_004245.3:c.577T>C	NP_004236.1:p.Tyr193His
NM_201631.3:c.823T>C	NP_963925.2:p.Tyr275His
XM_011522229.1:c.823T>C	XP_011520531.1:p.Tyr275His
XR_931948.1:n.997T>C
NM_004245.4:c.577T>C	NP_004236.1:p.Tyr193His
NM_201631.4:c.823T>C MANE Select	NP_963925.2:p.Tyr275His