Canonical Allele Identifier: CA805948433
Gene: SAP30L HGNC NCBI

Linked Data

dbSNP Id: rs1233788985
MyVariant Identifiers: chr5:g.153837058T>G (hg19) chr5:g.154457498T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.154457498T>G , CM000667.2:g.154457498T>G GRCh38
NC_000005.9:g.153837058T>G , CM000667.1:g.153837058T>G GRCh37
NC_000005.8:g.153817251T>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000297109.11:c.*1470T>G MANE Select ENSP00000297109.5:n.*1470T>G
ENST00000297109.10:c.*1470T>G ENSP00000297109.5:n.*1470T>G
NM_001131062.1:c.*1470T>G NP_001124534.1:n.*1470T>G
NM_001131063.1:c.*1470T>G NP_001124535.1:n.*1470T>G
NM_024632.5:c.*1470T>G NP_078908.1:n.*1470T>G
NR_024084.1:n.2714T>G
NM_024632.6:c.*1470T>G MANE Select NP_078908.1:n.*1470T>G
NM_001131062.2:c.*1470T>G NP_001124534.1:n.*1470T>G
NM_001131063.2:c.*1470T>G NP_001124535.1:n.*1470T>G
NR_024084.2:n.2674T>G
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