Canonical Allele Identifier: CA5593843
Gene: LIPA HGNC NCBI

Linked Data

ClinVar Variation Id: 595978
dbSNP Id: rs138408240

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.89247643T>A , CM000672.2:g.89247643T>A GRCh38
NC_000010.10:g.91007400T>A , CM000672.1:g.91007400T>A GRCh37
NC_000010.9:g.90997380T>A NCBI36
NG_008194.1:g.9261A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000336233.10:c.6A>T MANE Select ENSP00000337354.5:p.Lys2Asn
ENST00000282673.5:c.6A>T ENSP00000282673.4:p.Lys2Asn
ENST00000336233.9:c.6A>T ENSP00000337354.5:p.Lys2Asn
ENST00000371837.5:c.62-19245A>T ENSP00000360903.1:n.62-19245A>T
ENST00000428800.5:c.6A>T ENSP00000388415.1:p.Lys2Asn
ENST00000456827.5:c.-120+4094A>T ENSP00000413019.2:n.-120+4094A>T
NM_000235.3:c.6A>T NP_000226.2:p.Lys2Asn
NM_001127605.2:c.6A>T NP_001121077.1:p.Lys2Asn
NM_001288979.1:c.-120+4094A>T NP_001275908.1:n.-120+4094A>T
XM_024448023.1:c.6A>T XP_024303791.1:p.Lys2Asn
NM_000235.4:c.6A>T MANE Select NP_000226.2:p.Lys2Asn
NM_001127605.3:c.6A>T NP_001121077.1:p.Lys2Asn
NM_001288979.2:c.-120+4094A>T NP_001275908.1:n.-120+4094A>T