Canonical Allele Identifier: CA5020682

Gene: TOPORS

Linked Data

• dbSNP Id: rs555058970
• ExAC: 9:32550727 C / A
• gnomAD v2: 9-32550727-C-A
• gnomAD v4: 9-32550729-C-A
• MyVariant Identifiers: chr9:g.32550727C>A (hg19) ; chr9:g.32550729C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.32550729C>A , CM000671.2:g.32550729C>A	GRCh38
NC_000009.11:g.32550727C>A , CM000671.1:g.32550727C>A	GRCh37
NC_000009.10:g.32540727C>A	NCBI36
NG_017050.1:g.6896G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360538.7:c.198+45G>T MANE Select	ENSP00000353735.2:n.198+45G>T
ENST00000680198.1:c.198+45G>T	ENSP00000505143.1:n.198+45G>T
ENST00000681750.1:c.-45+45G>T	ENSP00000506413.1:n.-45+45G>T
ENST00000360538.6:c.198+45G>T	ENSP00000353735.2:n.198+45G>T
ENST00000379858.1:c.3+1705G>T	ENSP00000369187.1:n.3+1705G>T
NM_001195622.1:c.3+1705G>T	NP_001182551.1:n.3+1705G>T
NM_005802.4:c.198+45G>T	NP_005793.2:n.198+45G>T
NM_005802.5:c.198+45G>T MANE Select	NP_005793.2:n.198+45G>T
NM_001195622.2:c.3+1705G>T	NP_001182551.1:n.3+1705G>T