Canonical Allele Identifier: CA622218567

Gene: HEATR3

Linked Data

• dbSNP Id: rs1286413333
• gnomAD v2: 16-50103681-A-G
• MyVariant Identifiers: chr16:g.50103681A>G (hg19) ; chr16:g.50069770A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50069770A>G , CM000678.2:g.50069770A>G	GRCh38
NC_000016.9:g.50103681A>G , CM000678.1:g.50103681A>G	GRCh37
NC_000016.8:g.48661182A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685571.1:n.639-408A>G
ENST00000689598.1:c.231-408A>G
ENST00000690683.1:n.476+3231A>G
ENST00000691270.1:n.252-408A>G
ENST00000691604.1:n.383-408A>G
ENST00000692328.1:c.400-408A>G	ENSP00000510114.1:n.400-408A>G
ENST00000693352.1:c.237-408A>G
ENST00000693599.1:n.117+3231A>G
ENST00000299192.8:c.400-408A>G MANE Select	ENSP00000299192.7:n.400-408A>G
ENST00000299192.7:c.400-408A>G	ENSP00000299192.7:n.400-408A>G
ENST00000561819.1:n.408-408A>G
NM_182922.2:c.400-408A>G	NP_891552.1:n.400-408A>G
XM_005256013.1:c.142-408A>G	XP_005256070.1:n.142-408A>G
XM_011523188.1:c.49-408A>G	XP_011521490.1:n.49-408A>G
XM_011523189.1:c.-61-374A>G	XP_011521491.1:n.-61-374A>G
NM_001329729.1:c.49-408A>G	NP_001316658.1:n.49-408A>G
NM_001329730.1:c.49-408A>G	NP_001316659.1:n.49-408A>G
NM_001329731.1:c.-184-408A>G	NP_001316660.1:n.-184-408A>G
NM_182922.3:c.400-408A>G	NP_891552.1:n.400-408A>G
NR_138092.1:n.591-408A>G
NR_138093.1:n.591-408A>G
XM_005256013.2:c.142-408A>G	XP_005256070.1:n.142-408A>G
XM_017023386.1:c.-184-408A>G	XP_016878875.1:n.-184-408A>G
XR_002957828.1:n.591-408A>G
NM_182922.4:c.400-408A>G MANE Select	NP_891552.1:n.400-408A>G
NM_001329729.2:c.49-408A>G	NP_001316658.1:n.49-408A>G
NM_001329730.2:c.49-408A>G	NP_001316659.1:n.49-408A>G
NM_001329731.2:c.-184-408A>G	NP_001316660.1:n.-184-408A>G
NR_138092.2:n.562-408A>G
NR_138093.2:n.562-408A>G