Canonical Allele Identifier: CA10659188
Gene: SPSB1 HGNC NCBI

Linked Data

dbSNP Id: rs11121380
gnomAD v2: 1-9408959-A-C
gnomAD v3: 1-9348900-A-C
gnomAD v4: 1-9348900-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.9348900A>C , CM000663.2:g.9348900A>C GRCh38
NC_000001.10:g.9408959A>C , CM000663.1:g.9408959A>C GRCh37
NC_000001.9:g.9331546A>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000328089.11:c.-149-6843A>C MANE Select ENSP00000330221.6:n.-149-6843A>C
ENST00000328089.10:c.-149-6843A>C ENSP00000330221.6:n.-149-6843A>C
ENST00000450402.1:c.-149-6843A>C ENSP00000409235.1:n.-149-6843A>C
NM_025106.3:c.-149-6843A>C NP_079382.2:n.-149-6843A>C
NM_025106.4:c.-149-6843A>C MANE Select NP_079382.2:n.-149-6843A>C