Canonical Allele Identifier: CA2768993094

Gene: SAP30L

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.154457458A>T , CM000667.2:g.154457458A>T	GRCh38
NC_000005.9:g.153837018A>T , CM000667.1:g.153837018A>T	GRCh37
NC_000005.8:g.153817211A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297109.11:c.*1430A>T MANE Select	ENSP00000297109.5:n.*1430A>T
ENST00000297109.10:c.*1430A>T	ENSP00000297109.5:n.*1430A>T
NM_001131062.1:c.*1430A>T	NP_001124534.1:n.*1430A>T
NM_001131063.1:c.*1430A>T	NP_001124535.1:n.*1430A>T
NM_024632.5:c.*1430A>T	NP_078908.1:n.*1430A>T
NR_024084.1:n.2674A>T
NM_024632.6:c.*1430A>T MANE Select	NP_078908.1:n.*1430A>T
NM_001131062.2:c.*1430A>T	NP_001124534.1:n.*1430A>T
NM_001131063.2:c.*1430A>T	NP_001124535.1:n.*1430A>T
NR_024084.2:n.2634A>T