Canonical Allele Identifier: CA2689683689

Gene: TOPORS SMIM27

Linked Data

• gnomAD v4: 9-32551141-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.32551141T>A , CM000671.2:g.32551141T>A	GRCh38
NC_000009.11:g.32551139T>A , CM000671.1:g.32551139T>A	GRCh37
NC_000009.10:g.32541139T>A	NCBI36
NG_017050.1:g.6484A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360538.7:c.4-173A>T (TOPORS) MANE Select	ENSP00000353735.2:n.4-173A>T
ENST00000680198.1:c.4-173A>T	ENSP00000505143.1:n.4-173A>T
ENST00000681750.1:c.-239-173A>T	ENSP00000506413.1:n.-239-173A>T
ENST00000360538.6:c.4-173A>T (TOPORS)	ENSP00000353735.2:n.4-173A>T
ENST00000379858.1:c.3+1293A>T (TOPORS)	ENSP00000369187.1:n.3+1293A>T
NM_001195622.1:c.3+1293A>T (TOPORS)	NP_001182551.1:n.3+1293A>T
NM_005802.4:c.4-173A>T (TOPORS)	NP_005793.2:n.4-173A>T
XM_024447368.1:c.148T>A (SMIM27)	XP_024303136.1:p.Ser50Thr
NM_005802.5:c.4-173A>T (TOPORS) MANE Select	NP_005793.2:n.4-173A>T
NM_001195622.2:c.3+1293A>T (TOPORS)	NP_001182551.1:n.3+1293A>T