Canonical Allele Identifier: CA395844503

Gene: HEATR3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50102266G>A , CM000678.2:g.50102266G>A	GRCh38
NC_000016.9:g.50136177G>A , CM000678.1:g.50136177G>A	GRCh37
NC_000016.8:g.48693678G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_182922.4:c.1751G>A MANE Select	NP_891552.1:p.Gly584Glu
ENST00000299192.8:c.1751G>A MANE Select	ENSP00000299192.7:p.Gly584Glu
NM_001329729.1:c.1400G>A	NP_001316658.1:p.Gly467Glu
NM_001329729.2:c.1400G>A	NP_001316658.1:p.Gly467Glu
NM_001329730.1:c.1400G>A	NP_001316659.1:p.Gly467Glu
NM_001329730.2:c.1400G>A	NP_001316659.1:p.Gly467Glu
NM_001329731.1:c.1058G>A	NP_001316660.1:p.Gly353Glu
NM_001329731.2:c.1058G>A	NP_001316660.1:p.Gly353Glu
NM_182922.2:c.1751G>A	NP_891552.1:p.Gly584Glu
NM_182922.3:c.1751G>A	NP_891552.1:p.Gly584Glu
NR_138092.1:n.2222G>A
NR_138092.2:n.2193G>A
NR_138093.1:n.1858G>A
NR_138093.2:n.1829G>A
ENST00000299192.7:c.1751G>A	ENSP00000299192.7:p.Gly584Glu
ENST00000685571.1:n.1990G>A
ENST00000689598.1:c.1575-87G>A
ENST00000690683.1:n.3490G>A
ENST00000691120.1:n.1232G>A
ENST00000691270.1:n.1493G>A
ENST00000691604.1:n.1624G>A
ENST00000692328.1:c.*1188G>A	ENSP00000510114.1:n.*1188G>A
ENST00000693174.1:c.1276G>A
ENST00000693352.1:c.1504G>A
ENST00000693599.1:n.1272G>A
XM_005256013.1:c.1493G>A	XP_005256070.1:p.Gly498Glu
XM_005256013.2:c.1493G>A	XP_005256070.1:p.Gly498Glu
XM_005256014.2:c.1058G>A	XP_005256071.1:p.Gly353Glu
XM_011523188.1:c.1400G>A	XP_011521490.1:p.Gly467Glu
XM_011523189.1:c.1325G>A	XP_011521491.1:p.Gly442Glu
XM_011523490.1:c.224-1496C>T	XP_011521792.1:n.224-1496C>T
XM_017023386.1:c.1058G>A	XP_016878875.1:p.Gly353Glu
XR_002957828.1:n.1968G>A