Canonical Allele Identifier: CA495225336
Gene: HEATR3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.50103647A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.50069736A>C , CM000678.2:g.50069736A>C GRCh38
NC_000016.9:g.50103647A>C , CM000678.1:g.50103647A>C GRCh37
NC_000016.8:g.48661148A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000685571.1:n.639-442A>C
ENST00000689598.1:c.231-442A>C
ENST00000690683.1:n.476+3197A>C
ENST00000691270.1:n.252-442A>C
ENST00000691604.1:n.383-442A>C
ENST00000692328.1:c.400-442A>C ENSP00000510114.1:n.400-442A>C
ENST00000693352.1:c.237-442A>C
ENST00000693599.1:n.117+3197A>C
ENST00000299192.8:c.400-442A>C MANE Select ENSP00000299192.7:n.400-442A>C
ENST00000299192.7:c.400-442A>C ENSP00000299192.7:n.400-442A>C
ENST00000561819.1:n.408-442A>C
NM_182922.2:c.400-442A>C NP_891552.1:n.400-442A>C
XM_005256013.1:c.142-442A>C XP_005256070.1:n.142-442A>C
XM_011523188.1:c.49-442A>C XP_011521490.1:n.49-442A>C
XM_011523189.1:c.-61-408A>C XP_011521491.1:n.-61-408A>C
NM_001329729.1:c.49-442A>C NP_001316658.1:n.49-442A>C
NM_001329730.1:c.49-442A>C NP_001316659.1:n.49-442A>C
NM_001329731.1:c.-184-442A>C NP_001316660.1:n.-184-442A>C
NM_182922.3:c.400-442A>C NP_891552.1:n.400-442A>C
NR_138092.1:n.591-442A>C
NR_138093.1:n.591-442A>C
XM_005256013.2:c.142-442A>C XP_005256070.1:n.142-442A>C
XM_017023386.1:c.-184-442A>C XP_016878875.1:n.-184-442A>C
XR_002957828.1:n.591-442A>C
NM_182922.4:c.400-442A>C MANE Select NP_891552.1:n.400-442A>C
NM_001329729.2:c.49-442A>C NP_001316658.1:n.49-442A>C
NM_001329730.2:c.49-442A>C NP_001316659.1:n.49-442A>C
NM_001329731.2:c.-184-442A>C NP_001316660.1:n.-184-442A>C
NR_138092.2:n.562-442A>C
NR_138093.2:n.562-442A>C