Canonical Allele Identifier: CA2710564272

Gene: SAP30L

Linked Data

• dbSNP Id: rs2113284112

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.154457484C>G , CM000667.2:g.154457484C>G	GRCh38
NC_000005.9:g.153837044C>G , CM000667.1:g.153837044C>G	GRCh37
NC_000005.8:g.153817237C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000297109.11:c.*1456C>G MANE Select	ENSP00000297109.5:n.*1456C>G
ENST00000297109.10:c.*1456C>G	ENSP00000297109.5:n.*1456C>G
NM_001131062.1:c.*1456C>G	NP_001124534.1:n.*1456C>G
NM_001131063.1:c.*1456C>G	NP_001124535.1:n.*1456C>G
NM_024632.5:c.*1456C>G	NP_078908.1:n.*1456C>G
NR_024084.1:n.2700C>G
NM_024632.6:c.*1456C>G MANE Select	NP_078908.1:n.*1456C>G
NM_001131062.2:c.*1456C>G	NP_001124534.1:n.*1456C>G
NM_001131063.2:c.*1456C>G	NP_001124535.1:n.*1456C>G
NR_024084.2:n.2660C>G