Canonical Allele Identifier: CA392099833

Gene: TGM5

Linked Data

• MyVariant Identifiers: chr15:g.43545104T>G (hg19) ; chr15:g.43252906T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43252906T>G , CM000677.2:g.43252906T>G	GRCh38
NC_000015.9:g.43545104T>G , CM000677.1:g.43545104T>G	GRCh37
NC_000015.8:g.41332396T>G	NCBI36
NG_016124.1:g.18952A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220420.10:c.715A>C MANE Select	ENSP00000220420.5:p.Asn239His
ENST00000635871.1:n.184A>C
ENST00000220420.9:c.715A>C	ENSP00000220420.5:p.Asn239His
ENST00000349114.8:c.469A>C	ENSP00000220419.8:p.Asn157His
ENST00000610827.4:c.712A>C	ENSP00000479732.1:p.Asn238His
ENST00000611276.4:c.466A>C	ENSP00000482542.1:p.Asn156His
ENST00000622115.1:c.718A>C	ENSP00000479638.1:p.Asn240His
NM_004245.3:c.469A>C	NP_004236.1:p.Asn157His
NM_201631.3:c.715A>C	NP_963925.2:p.Asn239His
XM_011522229.1:c.715A>C	XP_011520531.1:p.Asn239His
XR_931948.1:n.889A>C
NM_004245.4:c.469A>C	NP_004236.1:p.Asn157His
NM_201631.4:c.715A>C MANE Select	NP_963925.2:p.Asn239His