Canonical Allele Identifier: CA281213340

Gene: HEATR3

Linked Data

• dbSNP Id: rs981532168
• MyVariant Identifiers: chr16:g.50103701C>T (hg19) ; chr16:g.50069790C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50069790C>T , CM000678.2:g.50069790C>T	GRCh38
NC_000016.9:g.50103701C>T , CM000678.1:g.50103701C>T	GRCh37
NC_000016.8:g.48661202C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685571.1:n.639-388C>T
ENST00000689598.1:c.231-388C>T
ENST00000690683.1:n.476+3251C>T
ENST00000691270.1:n.252-388C>T
ENST00000691604.1:n.383-388C>T
ENST00000692328.1:c.400-388C>T	ENSP00000510114.1:n.400-388C>T
ENST00000693352.1:c.237-388C>T
ENST00000693599.1:n.117+3251C>T
ENST00000299192.8:c.400-388C>T MANE Select	ENSP00000299192.7:n.400-388C>T
ENST00000299192.7:c.400-388C>T	ENSP00000299192.7:n.400-388C>T
ENST00000561819.1:n.408-388C>T
NM_182922.2:c.400-388C>T	NP_891552.1:n.400-388C>T
XM_005256013.1:c.142-388C>T	XP_005256070.1:n.142-388C>T
XM_011523188.1:c.49-388C>T	XP_011521490.1:n.49-388C>T
XM_011523189.1:c.-61-354C>T	XP_011521491.1:n.-61-354C>T
NM_001329729.1:c.49-388C>T	NP_001316658.1:n.49-388C>T
NM_001329730.1:c.49-388C>T	NP_001316659.1:n.49-388C>T
NM_001329731.1:c.-184-388C>T	NP_001316660.1:n.-184-388C>T
NM_182922.3:c.400-388C>T	NP_891552.1:n.400-388C>T
NR_138092.1:n.591-388C>T
NR_138093.1:n.591-388C>T
XM_005256013.2:c.142-388C>T	XP_005256070.1:n.142-388C>T
XM_017023386.1:c.-184-388C>T	XP_016878875.1:n.-184-388C>T
XR_002957828.1:n.591-388C>T
NM_182922.4:c.400-388C>T MANE Select	NP_891552.1:n.400-388C>T
NM_001329729.2:c.49-388C>T	NP_001316658.1:n.49-388C>T
NM_001329730.2:c.49-388C>T	NP_001316659.1:n.49-388C>T
NM_001329731.2:c.-184-388C>T	NP_001316660.1:n.-184-388C>T
NR_138092.2:n.562-388C>T
NR_138093.2:n.562-388C>T