Canonical Allele Identifier: CA395836592

Gene: HEATR3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50075667C>T , CM000678.2:g.50075667C>T	GRCh38
NC_000016.9:g.50109578C>T , CM000678.1:g.50109578C>T	GRCh37
NC_000016.8:g.48667079C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_182922.4:c.719C>T MANE Select	NP_891552.1:p.Pro240Leu
ENST00000299192.8:c.719C>T MANE Select	ENSP00000299192.7:p.Pro240Leu
NM_001329729.1:c.368C>T	NP_001316658.1:p.Pro123Leu
NM_001329729.2:c.368C>T	NP_001316658.1:p.Pro123Leu
NM_001329730.1:c.368C>T	NP_001316659.1:p.Pro123Leu
NM_001329730.2:c.368C>T	NP_001316659.1:p.Pro123Leu
NM_001329731.1:c.26C>T	NP_001316660.1:p.Pro9Leu
NM_001329731.2:c.26C>T	NP_001316660.1:p.Pro9Leu
NM_182922.2:c.719C>T	NP_891552.1:p.Pro240Leu
NM_182922.3:c.719C>T	NP_891552.1:p.Pro240Leu
NR_138092.1:n.910C>T
NR_138092.2:n.881C>T
NR_138093.1:n.800C>T
NR_138093.2:n.771C>T
ENST00000299192.7:c.719C>T	ENSP00000299192.7:p.Pro240Leu
ENST00000685571.1:n.958C>T
ENST00000689598.1:c.550C>T
ENST00000690683.1:n.573C>T
ENST00000691120.1:n.200C>T
ENST00000691270.1:n.461C>T
ENST00000691604.1:n.592C>T
ENST00000692328.1:c.719C>T	ENSP00000510114.1:p.Pro240Leu
ENST00000693174.1:c.145C>T
ENST00000693352.1:c.446C>T
ENST00000693599.1:n.214C>T
XM_005256013.1:c.461C>T	XP_005256070.1:p.Pro154Leu
XM_005256013.2:c.461C>T	XP_005256070.1:p.Pro154Leu
XM_005256014.2:c.26C>T	XP_005256071.1:p.Pro9Leu
XM_011523188.1:c.368C>T	XP_011521490.1:p.Pro123Leu
XM_011523189.1:c.293C>T	XP_011521491.1:p.Pro98Leu
XM_017023386.1:c.26C>T	XP_016878875.1:p.Pro9Leu
XR_002957828.1:n.910C>T