Canonical Allele Identifier: CA17780129
Gene: SPSB1 HGNC NCBI

Linked Data

dbSNP Id: rs758483422
gnomAD v2: 1-9408792-G-A
gnomAD v3: 1-9348733-G-A
gnomAD v4: 1-9348733-G-A
MyVariant Identifiers: chr1:g.9408792G>A (hg19) chr1:g.9348733G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.9348733G>A , CM000663.2:g.9348733G>A GRCh38
NC_000001.10:g.9408792G>A , CM000663.1:g.9408792G>A GRCh37
NC_000001.9:g.9331379G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000328089.11:c.-149-7010G>A MANE Select ENSP00000330221.6:n.-149-7010G>A
ENST00000328089.10:c.-149-7010G>A ENSP00000330221.6:n.-149-7010G>A
ENST00000450402.1:c.-149-7010G>A ENSP00000409235.1:n.-149-7010G>A
NM_025106.3:c.-149-7010G>A NP_079382.2:n.-149-7010G>A
NM_025106.4:c.-149-7010G>A MANE Select NP_079382.2:n.-149-7010G>A
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