Canonical Allele Identifier: CA395835459

Gene: HEATR3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50070178T>C , CM000678.2:g.50070178T>C	GRCh38
NC_000016.9:g.50104089T>C , CM000678.1:g.50104089T>C	GRCh37
NC_000016.8:g.48661590T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_182922.4:c.400T>C MANE Select	NP_891552.1:p.Cys134Arg
ENST00000299192.8:c.400T>C MANE Select	ENSP00000299192.7:p.Cys134Arg
NM_001329729.1:c.49T>C	NP_001316658.1:p.Cys17Arg
NM_001329729.2:c.49T>C	NP_001316658.1:p.Cys17Arg
NM_001329730.1:c.49T>C	NP_001316659.1:p.Cys17Arg
NM_001329730.2:c.49T>C	NP_001316659.1:p.Cys17Arg
NM_001329731.1:c.-184T>C	NP_001316660.1:n.-184T>C
NM_001329731.2:c.-184T>C	NP_001316660.1:n.-184T>C
NM_182922.2:c.400T>C	NP_891552.1:p.Cys134Arg
NM_182922.3:c.400T>C	NP_891552.1:p.Cys134Arg
NR_138092.1:n.591T>C
NR_138092.2:n.562T>C
NR_138093.1:n.591T>C
NR_138093.2:n.562T>C
ENST00000299192.7:c.400T>C	ENSP00000299192.7:p.Cys134Arg
ENST00000561819.1:n.408T>C
ENST00000685571.1:n.639T>C
ENST00000689598.1:c.231T>C
ENST00000690683.1:n.476+3639T>C
ENST00000691270.1:n.252T>C
ENST00000691604.1:n.383T>C
ENST00000692328.1:c.400T>C	ENSP00000510114.1:p.Cys134Arg
ENST00000693352.1:c.237T>C
ENST00000693599.1:n.117+3639T>C
XM_005256013.1:c.142T>C	XP_005256070.1:p.Cys48Arg
XM_005256013.2:c.142T>C	XP_005256070.1:p.Cys48Arg
XM_011523188.1:c.49T>C	XP_011521490.1:p.Cys17Arg
XM_011523189.1:c.-27T>C	XP_011521491.1:n.-27T>C
XM_017023386.1:c.-184T>C	XP_016878875.1:n.-184T>C
XR_002957828.1:n.591T>C