Canonical Allele Identifier: CA1592781291
Gene: SAP30L HGNC NCBI

Linked Data

dbSNP Id: rs1757287760
gnomAD v4: 5-154457464-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.154457464T>C , CM000667.2:g.154457464T>C GRCh38
NC_000005.9:g.153837024T>C , CM000667.1:g.153837024T>C GRCh37
NC_000005.8:g.153817217T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000297109.11:c.*1436T>C MANE Select ENSP00000297109.5:n.*1436T>C
ENST00000297109.10:c.*1436T>C ENSP00000297109.5:n.*1436T>C
NM_001131062.1:c.*1436T>C NP_001124534.1:n.*1436T>C
NM_001131063.1:c.*1436T>C NP_001124535.1:n.*1436T>C
NM_024632.5:c.*1436T>C NP_078908.1:n.*1436T>C
NR_024084.1:n.2680T>C
NM_024632.6:c.*1436T>C MANE Select NP_078908.1:n.*1436T>C
NM_001131062.2:c.*1436T>C NP_001124534.1:n.*1436T>C
NM_001131063.2:c.*1436T>C NP_001124535.1:n.*1436T>C
NR_024084.2:n.2640T>C
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