Canonical Allele Identifier: CA2676142226
Gene: SAP30L HGNC NCBI

Linked Data

gnomAD v4: 5-154457462-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.154457462C>T , CM000667.2:g.154457462C>T GRCh38
NC_000005.9:g.153837022C>T , CM000667.1:g.153837022C>T GRCh37
NC_000005.8:g.153817215C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000297109.11:c.*1434C>T MANE Select ENSP00000297109.5:n.*1434C>T
ENST00000297109.10:c.*1434C>T ENSP00000297109.5:n.*1434C>T
NM_001131062.1:c.*1434C>T NP_001124534.1:n.*1434C>T
NM_001131063.1:c.*1434C>T NP_001124535.1:n.*1434C>T
NM_024632.5:c.*1434C>T NP_078908.1:n.*1434C>T
NR_024084.1:n.2678C>T
NM_024632.6:c.*1434C>T MANE Select NP_078908.1:n.*1434C>T
NM_001131062.2:c.*1434C>T NP_001124534.1:n.*1434C>T
NM_001131063.2:c.*1434C>T NP_001124535.1:n.*1434C>T
NR_024084.2:n.2638C>T
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