Canonical Allele Identifier: CA373173502

Gene: TOPORS

Linked Data

• MyVariant Identifiers: chr9:g.32550845T>A (hg19) ; chr9:g.32550847T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.32550847T>A , CM000671.2:g.32550847T>A	GRCh38
NC_000009.11:g.32550845T>A , CM000671.1:g.32550845T>A	GRCh37
NC_000009.10:g.32540845T>A	NCBI36
NG_017050.1:g.6778A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360538.7:c.125A>T MANE Select	ENSP00000353735.2:p.His42Leu
ENST00000680198.1:c.125A>T	ENSP00000505143.1:p.His42Leu
ENST00000681750.1:c.-118A>T	ENSP00000506413.1:n.-118A>T
ENST00000360538.6:c.125A>T	ENSP00000353735.2:p.His42Leu
ENST00000379858.1:c.3+1587A>T	ENSP00000369187.1:n.3+1587A>T
NM_001195622.1:c.3+1587A>T	NP_001182551.1:n.3+1587A>T
NM_005802.4:c.125A>T	NP_005793.2:p.His42Leu
NM_005802.5:c.125A>T MANE Select	NP_005793.2:p.His42Leu
NM_001195622.2:c.3+1587A>T	NP_001182551.1:n.3+1587A>T