Canonical Allele Identifier: CA281213325

Gene: HEATR3

Linked Data

• dbSNP Id: rs1016693184
• gnomAD v3: 16-50069762-G-C
• gnomAD v4: 16-50069762-G-C
• MyVariant Identifiers: chr16:g.50103673G>C (hg19) ; chr16:g.50069762G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50069762G>C , CM000678.2:g.50069762G>C	GRCh38
NC_000016.9:g.50103673G>C , CM000678.1:g.50103673G>C	GRCh37
NC_000016.8:g.48661174G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685571.1:n.639-416G>C
ENST00000689598.1:c.231-416G>C
ENST00000690683.1:n.476+3223G>C
ENST00000691270.1:n.252-416G>C
ENST00000691604.1:n.383-416G>C
ENST00000692328.1:c.400-416G>C	ENSP00000510114.1:n.400-416G>C
ENST00000693352.1:c.237-416G>C
ENST00000693599.1:n.117+3223G>C
ENST00000299192.8:c.400-416G>C MANE Select	ENSP00000299192.7:n.400-416G>C
ENST00000299192.7:c.400-416G>C	ENSP00000299192.7:n.400-416G>C
ENST00000561819.1:n.408-416G>C
NM_182922.2:c.400-416G>C	NP_891552.1:n.400-416G>C
XM_005256013.1:c.142-416G>C	XP_005256070.1:n.142-416G>C
XM_011523188.1:c.49-416G>C	XP_011521490.1:n.49-416G>C
XM_011523189.1:c.-61-382G>C	XP_011521491.1:n.-61-382G>C
NM_001329729.1:c.49-416G>C	NP_001316658.1:n.49-416G>C
NM_001329730.1:c.49-416G>C	NP_001316659.1:n.49-416G>C
NM_001329731.1:c.-184-416G>C	NP_001316660.1:n.-184-416G>C
NM_182922.3:c.400-416G>C	NP_891552.1:n.400-416G>C
NR_138092.1:n.591-416G>C
NR_138093.1:n.591-416G>C
XM_005256013.2:c.142-416G>C	XP_005256070.1:n.142-416G>C
XM_017023386.1:c.-184-416G>C	XP_016878875.1:n.-184-416G>C
XR_002957828.1:n.591-416G>C
NM_182922.4:c.400-416G>C MANE Select	NP_891552.1:n.400-416G>C
NM_001329729.2:c.49-416G>C	NP_001316658.1:n.49-416G>C
NM_001329730.2:c.49-416G>C	NP_001316659.1:n.49-416G>C
NM_001329731.2:c.-184-416G>C	NP_001316660.1:n.-184-416G>C
NR_138092.2:n.562-416G>C
NR_138093.2:n.562-416G>C