Canonical Allele Identifier: CA281213378

Gene: HEATR3

Linked Data

• dbSNP Id: rs986730534
• gnomAD v3: 16-50069855-T-G
• gnomAD v4: 16-50069855-T-G
• MyVariant Identifiers: chr16:g.50103766T>G (hg19) ; chr16:g.50069855T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50069855T>G , CM000678.2:g.50069855T>G	GRCh38
NC_000016.9:g.50103766T>G , CM000678.1:g.50103766T>G	GRCh37
NC_000016.8:g.48661267T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685571.1:n.639-323T>G
ENST00000689598.1:c.231-323T>G
ENST00000690683.1:n.476+3316T>G
ENST00000691270.1:n.252-323T>G
ENST00000691604.1:n.383-323T>G
ENST00000692328.1:c.400-323T>G	ENSP00000510114.1:n.400-323T>G
ENST00000693352.1:c.237-323T>G
ENST00000693599.1:n.117+3316T>G
ENST00000299192.8:c.400-323T>G MANE Select	ENSP00000299192.7:n.400-323T>G
ENST00000299192.7:c.400-323T>G	ENSP00000299192.7:n.400-323T>G
ENST00000561819.1:n.408-323T>G
NM_182922.2:c.400-323T>G	NP_891552.1:n.400-323T>G
XM_005256013.1:c.142-323T>G	XP_005256070.1:n.142-323T>G
XM_011523188.1:c.49-323T>G	XP_011521490.1:n.49-323T>G
XM_011523189.1:c.-61-289T>G	XP_011521491.1:n.-61-289T>G
NM_001329729.1:c.49-323T>G	NP_001316658.1:n.49-323T>G
NM_001329730.1:c.49-323T>G	NP_001316659.1:n.49-323T>G
NM_001329731.1:c.-184-323T>G	NP_001316660.1:n.-184-323T>G
NM_182922.3:c.400-323T>G	NP_891552.1:n.400-323T>G
NR_138092.1:n.591-323T>G
NR_138093.1:n.591-323T>G
XM_005256013.2:c.142-323T>G	XP_005256070.1:n.142-323T>G
XM_017023386.1:c.-184-323T>G	XP_016878875.1:n.-184-323T>G
XR_002957828.1:n.591-323T>G
NM_182922.4:c.400-323T>G MANE Select	NP_891552.1:n.400-323T>G
NM_001329729.2:c.49-323T>G	NP_001316658.1:n.49-323T>G
NM_001329730.2:c.49-323T>G	NP_001316659.1:n.49-323T>G
NM_001329731.2:c.-184-323T>G	NP_001316660.1:n.-184-323T>G
NR_138092.2:n.562-323T>G
NR_138093.2:n.562-323T>G