Canonical Allele Identifier: CA373173415

Gene: TOPORS

Linked Data

• dbSNP Id: rs1358934402
• gnomAD v2: 9-32550822-G-C
• gnomAD v4: 9-32550824-G-C
• MyVariant Identifiers: chr9:g.32550822G>C (hg19) ; chr9:g.32550824G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.32550824G>C , CM000671.2:g.32550824G>C	GRCh38
NC_000009.11:g.32550822G>C , CM000671.1:g.32550822G>C	GRCh37
NC_000009.10:g.32540822G>C	NCBI36
NG_017050.1:g.6801C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360538.7:c.148C>G MANE Select	ENSP00000353735.2:p.Arg50Gly
ENST00000680198.1:c.148C>G	ENSP00000505143.1:p.Arg50Gly
ENST00000681750.1:c.-95C>G	ENSP00000506413.1:n.-95C>G
ENST00000360538.6:c.148C>G	ENSP00000353735.2:p.Arg50Gly
ENST00000379858.1:c.3+1610C>G	ENSP00000369187.1:n.3+1610C>G
NM_001195622.1:c.3+1610C>G	NP_001182551.1:n.3+1610C>G
NM_005802.4:c.148C>G	NP_005793.2:p.Arg50Gly
NM_005802.5:c.148C>G MANE Select	NP_005793.2:p.Arg50Gly
NM_001195622.2:c.3+1610C>G	NP_001182551.1:n.3+1610C>G