Canonical Allele Identifier: CA2605593458
Gene: SAP30L HGNC NCBI

Linked Data

dbSNP Id: rs2113284090
gnomAD v3: 5-154457453-A-G
gnomAD v4: 5-154457453-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.154457453A>G , CM000667.2:g.154457453A>G GRCh38
NC_000005.9:g.153837013A>G , CM000667.1:g.153837013A>G GRCh37
NC_000005.8:g.153817206A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000297109.11:c.*1425A>G MANE Select ENSP00000297109.5:n.*1425A>G
ENST00000297109.10:c.*1425A>G ENSP00000297109.5:n.*1425A>G
NM_001131062.1:c.*1425A>G NP_001124534.1:n.*1425A>G
NM_001131063.1:c.*1425A>G NP_001124535.1:n.*1425A>G
NM_024632.5:c.*1425A>G NP_078908.1:n.*1425A>G
NR_024084.1:n.2669A>G
NM_024632.6:c.*1425A>G MANE Select NP_078908.1:n.*1425A>G
NM_001131062.2:c.*1425A>G NP_001124534.1:n.*1425A>G
NM_001131063.2:c.*1425A>G NP_001124535.1:n.*1425A>G
NR_024084.2:n.2629A>G
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