Canonical Allele Identifier: CA740442486
Gene: SPSB1 HGNC NCBI

Linked Data

dbSNP Id: rs1221272574
gnomAD v3: 1-9348818-G-A
gnomAD v4: 1-9348818-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.9348818G>A , CM000663.2:g.9348818G>A GRCh38
NC_000001.10:g.9408877G>A , CM000663.1:g.9408877G>A GRCh37
NC_000001.9:g.9331464G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000328089.11:c.-149-6925G>A MANE Select ENSP00000330221.6:n.-149-6925G>A
ENST00000328089.10:c.-149-6925G>A ENSP00000330221.6:n.-149-6925G>A
ENST00000450402.1:c.-149-6925G>A ENSP00000409235.1:n.-149-6925G>A
NM_025106.3:c.-149-6925G>A NP_079382.2:n.-149-6925G>A
NM_025106.4:c.-149-6925G>A MANE Select NP_079382.2:n.-149-6925G>A