Canonical Allele Identifier: CA2667974548

Gene: SPSB4

Linked Data

• gnomAD v4: 3-141080397-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.141080397G>T , CM000665.2:g.141080397G>T	GRCh38
NC_000003.11:g.140799239G>T , CM000665.1:g.140799239G>T	GRCh37
NC_000003.10:g.142281929G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000310546.3:c.694+13599G>T MANE Select	ENSP00000311609.2:n.694+13599G>T
ENST00000310546.2:c.694+13599G>T	ENSP00000311609.2:n.694+13599G>T
ENST00000507895.1:n.246G>T
ENST00000508126.1:c.161+13599G>T
NM_080862.2:c.694+13599G>T	NP_543138.1:n.694+13599G>T
XM_011513313.1:c.694+13599G>T	XP_011511615.1:n.694+13599G>T
XR_924215.1:n.1536G>T
XR_924216.1:n.1536G>T
XM_017007509.2:c.*100G>T	XP_016862998.1:n.*100G>T
XR_924215.3:n.1017G>T
XR_924216.3:n.1017G>T
NM_080862.3:c.694+13599G>T MANE Select	NP_543138.1:n.694+13599G>T