Canonical Allele Identifier: CA395835448

Gene: HEATR3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50068868G>T , CM000678.2:g.50068868G>T	GRCh38
NC_000016.9:g.50102779G>T , CM000678.1:g.50102779G>T	GRCh37
NC_000016.8:g.48660280G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_182922.4:c.399+1G>T MANE Select	NP_891552.1:n.399+1G>T
ENST00000299192.8:c.399+1G>T MANE Select	ENSP00000299192.7:n.399+1G>T
NM_001329729.1:c.48+1G>T	NP_001316658.1:n.48+1G>T
NM_001329729.2:c.48+1G>T	NP_001316658.1:n.48+1G>T
NM_001329730.1:c.48+1G>T	NP_001316659.1:n.48+1G>T
NM_001329730.2:c.48+1G>T	NP_001316659.1:n.48+1G>T
NM_001329731.1:c.-185+1G>T	NP_001316660.1:n.-185+1G>T
NM_001329731.2:c.-185+1G>T	NP_001316660.1:n.-185+1G>T
NM_182922.2:c.399+1G>T	NP_891552.1:n.399+1G>T
NM_182922.3:c.399+1G>T	NP_891552.1:n.399+1G>T
NR_138092.1:n.590+1G>T
NR_138092.2:n.561+1G>T
NR_138093.1:n.590+1G>T
NR_138093.2:n.561+1G>T
ENST00000299192.7:c.399+1G>T	ENSP00000299192.7:n.399+1G>T
ENST00000561819.1:n.362+1G>T
ENST00000685571.1:n.638+1G>T
ENST00000689598.1:c.230+1G>T
ENST00000690683.1:n.476+2329G>T
ENST00000691270.1:n.251+1G>T
ENST00000691604.1:n.382+1G>T
ENST00000692328.1:c.399+1G>T	ENSP00000510114.1:n.399+1G>T
ENST00000693352.1:c.236+1G>T
ENST00000693599.1:n.117+2329G>T
XM_005256013.1:c.141+1G>T	XP_005256070.1:n.141+1G>T
XM_005256013.2:c.141+1G>T	XP_005256070.1:n.141+1G>T
XM_011523188.1:c.48+1G>T	XP_011521490.1:n.48+1G>T
XM_011523189.1:c.-62+1G>T	XP_011521491.1:n.-62+1G>T
XM_017023386.1:c.-185+1G>T	XP_016878875.1:n.-185+1G>T
XR_002957828.1:n.590+1G>T