Canonical Allele Identifier: CA1083159503
Gene: SAP30L HGNC NCBI

Linked Data

dbSNP Id: rs985617872
gnomAD v3: 5-154457459-C-A
gnomAD v4: 5-154457459-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.154457459C>A , CM000667.2:g.154457459C>A GRCh38
NC_000005.9:g.153837019C>A , CM000667.1:g.153837019C>A GRCh37
NC_000005.8:g.153817212C>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000297109.11:c.*1431C>A MANE Select ENSP00000297109.5:n.*1431C>A
ENST00000297109.10:c.*1431C>A ENSP00000297109.5:n.*1431C>A
NM_001131062.1:c.*1431C>A NP_001124534.1:n.*1431C>A
NM_001131063.1:c.*1431C>A NP_001124535.1:n.*1431C>A
NM_024632.5:c.*1431C>A NP_078908.1:n.*1431C>A
NR_024084.1:n.2675C>A
NM_024632.6:c.*1431C>A MANE Select NP_078908.1:n.*1431C>A
NM_001131062.2:c.*1431C>A NP_001124534.1:n.*1431C>A
NM_001131063.2:c.*1431C>A NP_001124535.1:n.*1431C>A
NR_024084.2:n.2635C>A
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