Canonical Allele Identifier: CA2579321291

Gene: TOPORS SMIM27

Linked Data

• gnomAD v4: 9-32551057-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.32551057A>C , CM000671.2:g.32551057A>C	GRCh38
NC_000009.11:g.32551055A>C , CM000671.1:g.32551055A>C	GRCh37
NC_000009.10:g.32541055A>C	NCBI36
NG_017050.1:g.6568T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360538.7:c.4-89T>G (TOPORS) MANE Select	ENSP00000353735.2:n.4-89T>G
ENST00000680198.1:c.4-89T>G	ENSP00000505143.1:n.4-89T>G
ENST00000681750.1:c.-239-89T>G	ENSP00000506413.1:n.-239-89T>G
ENST00000360538.6:c.4-89T>G (TOPORS)	ENSP00000353735.2:n.4-89T>G
ENST00000379858.1:c.3+1377T>G (TOPORS)	ENSP00000369187.1:n.3+1377T>G
NM_001195622.1:c.3+1377T>G (TOPORS)	NP_001182551.1:n.3+1377T>G
NM_005802.4:c.4-89T>G (TOPORS)	NP_005793.2:n.4-89T>G
XM_024447368.1:c.64A>C (SMIM27)	XP_024303136.1:p.Asn22His
NM_005802.5:c.4-89T>G (TOPORS) MANE Select	NP_005793.2:n.4-89T>G
NM_001195622.2:c.3+1377T>G (TOPORS)	NP_001182551.1:n.3+1377T>G