Canonical Allele Identifier: CA130045479

Gene: SAP30L

Linked Data

• dbSNP Id: rs985617872
• gnomAD v3: 5-154457459-C-T
• gnomAD v4: 5-154457459-C-T
• MyVariant Identifiers: chr5:g.153837019C>T (hg19) ; chr5:g.154457459C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.154457459C>T , CM000667.2:g.154457459C>T	GRCh38
NC_000005.9:g.153837019C>T , CM000667.1:g.153837019C>T	GRCh37
NC_000005.8:g.153817212C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000297109.11:c.*1431C>T MANE Select	ENSP00000297109.5:n.*1431C>T
ENST00000297109.10:c.*1431C>T	ENSP00000297109.5:n.*1431C>T
NM_001131062.1:c.*1431C>T	NP_001124534.1:n.*1431C>T
NM_001131063.1:c.*1431C>T	NP_001124535.1:n.*1431C>T
NM_024632.5:c.*1431C>T	NP_078908.1:n.*1431C>T
NR_024084.1:n.2675C>T
NM_024632.6:c.*1431C>T MANE Select	NP_078908.1:n.*1431C>T
NM_001131062.2:c.*1431C>T	NP_001124534.1:n.*1431C>T
NM_001131063.2:c.*1431C>T	NP_001124535.1:n.*1431C>T
NR_024084.2:n.2635C>T