Canonical Allele Identifier: CA395839169

Gene: HEATR3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50084615G>A , CM000678.2:g.50084615G>A	GRCh38
NC_000016.9:g.50118526G>A , CM000678.1:g.50118526G>A	GRCh37
NC_000016.8:g.48676027G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_182922.4:c.1337G>A MANE Select	NP_891552.1:p.Cys446Tyr
ENST00000299192.8:c.1337G>A MANE Select	ENSP00000299192.7:p.Cys446Tyr
NM_001329729.1:c.986G>A	NP_001316658.1:p.Cys329Tyr
NM_001329729.2:c.986G>A	NP_001316658.1:p.Cys329Tyr
NM_001329730.1:c.986G>A	NP_001316659.1:p.Cys329Tyr
NM_001329730.2:c.986G>A	NP_001316659.1:p.Cys329Tyr
NM_001329731.1:c.644G>A	NP_001316660.1:p.Cys215Tyr
NM_001329731.2:c.644G>A	NP_001316660.1:p.Cys215Tyr
NM_182922.2:c.1337G>A	NP_891552.1:p.Cys446Tyr
NM_182922.3:c.1337G>A	NP_891552.1:p.Cys446Tyr
NR_138092.1:n.1808G>A
NR_138092.2:n.1779G>A
NR_138093.1:n.1444G>A
NR_138093.2:n.1415G>A
ENST00000299192.7:c.1337G>A	ENSP00000299192.7:p.Cys446Tyr
ENST00000561525.5:n.397G>A
ENST00000564942.1:n.527G>A
ENST00000685571.1:n.1576G>A
ENST00000689598.1:c.1168G>A
ENST00000690683.1:n.1191G>A
ENST00000691120.1:n.818G>A
ENST00000691270.1:n.1079G>A
ENST00000691604.1:n.1210G>A
ENST00000692328.1:c.*774G>A	ENSP00000510114.1:n.*774G>A
ENST00000693174.1:c.763G>A
ENST00000693352.1:c.1090G>A
ENST00000693599.1:n.858G>A
XM_005256013.1:c.1079G>A	XP_005256070.1:p.Cys360Tyr
XM_005256013.2:c.1079G>A	XP_005256070.1:p.Cys360Tyr
XM_005256014.2:c.644G>A	XP_005256071.1:p.Cys215Tyr
XM_011523188.1:c.986G>A	XP_011521490.1:p.Cys329Tyr
XM_011523189.1:c.911G>A	XP_011521491.1:p.Cys304Tyr
XM_017023386.1:c.644G>A	XP_016878875.1:p.Cys215Tyr
XR_002957828.1:n.1554G>A