Canonical Allele Identifier: CA2676142222

Gene: SAP30L

Linked Data

• gnomAD v4: 5-154457460-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.154457460A>G , CM000667.2:g.154457460A>G	GRCh38
NC_000005.9:g.153837020A>G , CM000667.1:g.153837020A>G	GRCh37
NC_000005.8:g.153817213A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297109.11:c.*1432A>G MANE Select	ENSP00000297109.5:n.*1432A>G
ENST00000297109.10:c.*1432A>G	ENSP00000297109.5:n.*1432A>G
NM_001131062.1:c.*1432A>G	NP_001124534.1:n.*1432A>G
NM_001131063.1:c.*1432A>G	NP_001124535.1:n.*1432A>G
NM_024632.5:c.*1432A>G	NP_078908.1:n.*1432A>G
NR_024084.1:n.2676A>G
NM_024632.6:c.*1432A>G MANE Select	NP_078908.1:n.*1432A>G
NM_001131062.2:c.*1432A>G	NP_001124534.1:n.*1432A>G
NM_001131063.2:c.*1432A>G	NP_001124535.1:n.*1432A>G
NR_024084.2:n.2636A>G