Canonical Allele Identifier: CA563651272
Gene: SAP30L HGNC NCBI

Linked Data

dbSNP Id: rs1336880742
gnomAD v2: 5-153837056-T-A
gnomAD v3: 5-154457496-T-A
gnomAD v4: 5-154457496-T-A
MyVariant Identifiers: chr5:g.153837056T>A (hg19) chr5:g.154457496T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.154457496T>A , CM000667.2:g.154457496T>A GRCh38
NC_000005.9:g.153837056T>A , CM000667.1:g.153837056T>A GRCh37
NC_000005.8:g.153817249T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000297109.11:c.*1468T>A MANE Select ENSP00000297109.5:n.*1468T>A
ENST00000297109.10:c.*1468T>A ENSP00000297109.5:n.*1468T>A
NM_001131062.1:c.*1468T>A NP_001124534.1:n.*1468T>A
NM_001131063.1:c.*1468T>A NP_001124535.1:n.*1468T>A
NM_024632.5:c.*1468T>A NP_078908.1:n.*1468T>A
NR_024084.1:n.2712T>A
NM_024632.6:c.*1468T>A MANE Select NP_078908.1:n.*1468T>A
NM_001131062.2:c.*1468T>A NP_001124534.1:n.*1468T>A
NM_001131063.2:c.*1468T>A NP_001124535.1:n.*1468T>A
NR_024084.2:n.2672T>A
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