Canonical Allele Identifier: CA130045481

Gene: SAP30L

Linked Data

• dbSNP Id: rs569561453
• gnomAD v3: 5-154457506-A-G
• gnomAD v4: 5-154457506-A-G
• MyVariant Identifiers: chr5:g.153837066A>G (hg19) ; chr5:g.154457506A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.154457506A>G , CM000667.2:g.154457506A>G	GRCh38
NC_000005.9:g.153837066A>G , CM000667.1:g.153837066A>G	GRCh37
NC_000005.8:g.153817259A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297109.11:c.*1478A>G MANE Select	ENSP00000297109.5:n.*1478A>G
ENST00000297109.10:c.*1478A>G	ENSP00000297109.5:n.*1478A>G
NM_001131062.1:c.*1478A>G	NP_001124534.1:n.*1478A>G
NM_001131063.1:c.*1478A>G	NP_001124535.1:n.*1478A>G
NM_024632.5:c.*1478A>G	NP_078908.1:n.*1478A>G
NR_024084.1:n.2722A>G
NM_024632.6:c.*1478A>G MANE Select	NP_078908.1:n.*1478A>G
NM_001131062.2:c.*1478A>G	NP_001124534.1:n.*1478A>G
NM_001131063.2:c.*1478A>G	NP_001124535.1:n.*1478A>G
NR_024084.2:n.2682A>G