Canonical Allele Identifier: CA10629441
Gene: LIPA HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 301555
ClinVar RCV Id: RCV000259259
dbSNP Id: rs1131706

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.89213919A>T , CM000672.2:g.89213919A>T GRCh38
NC_000010.10:g.90973676A>T , CM000672.1:g.90973676A>T GRCh37
NC_000010.9:g.90963656A>T NCBI36
NG_008194.1:g.42985T>A

Transcript Alleles

HGVS Amino-acid change
NM_000235.3:c.*909T>A VV NP_000226.2:p.=
NM_001127605.2:c.*909T>A VV NP_001121077.1:p.=
NM_001288979.1:c.*909T>A VV NP_001275908.1:p.=
XM_024448023.1:c.*909T>A XP_024303791.1:p.=
NM_000235.4:c.*909T>A VV MANE Preferred
ENST00000336233.9:c.*909T>A ENSP00000337354.5:p.=
ENST00000371837.5:c.*909T>A ENSP00000360903.1:p.=
ENST00000456827.5:c.*909T>A ENSP00000413019.2:p.=