Canonical Allele Identifier: CA1083159527
Gene: SAP30L HGNC NCBI

Linked Data

dbSNP Id: rs1757288150
gnomAD v3: 5-154457501-G-A
gnomAD v4: 5-154457501-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.154457501G>A , CM000667.2:g.154457501G>A GRCh38
NC_000005.9:g.153837061G>A , CM000667.1:g.153837061G>A GRCh37
NC_000005.8:g.153817254G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000297109.11:c.*1473G>A MANE Select ENSP00000297109.5:n.*1473G>A
ENST00000297109.10:c.*1473G>A ENSP00000297109.5:n.*1473G>A
NM_001131062.1:c.*1473G>A NP_001124534.1:n.*1473G>A
NM_001131063.1:c.*1473G>A NP_001124535.1:n.*1473G>A
NM_024632.5:c.*1473G>A NP_078908.1:n.*1473G>A
NR_024084.1:n.2717G>A
NM_024632.6:c.*1473G>A MANE Select NP_078908.1:n.*1473G>A
NM_001131062.2:c.*1473G>A NP_001124534.1:n.*1473G>A
NM_001131063.2:c.*1473G>A NP_001124535.1:n.*1473G>A
NR_024084.2:n.2677G>A
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