Canonical Allele Identifier: CA1926733149
Gene: LIPA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.89222605T= , CM000672.2:g.89222605T= GRCh38
NC_000010.10:g.90982362T= , CM000672.1:g.90982362T= GRCh37
NC_000010.9:g.90972342T= NCBI36
NG_008194.1:g.34299A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000336233.10:c.823-23A= MANE Select ENSP00000337354.5:n.823-23A=
ENST00000336233.9:c.823-23A= ENSP00000337354.5:n.823-23A=
ENST00000371837.5:c.655-23A= ENSP00000360903.1:n.655-23A=
ENST00000428800.5:c.823-23A= ENSP00000388415.1:n.823-23A=
ENST00000456827.5:c.475-23A= ENSP00000413019.2:n.475-23A=
NM_000235.3:c.823-23A= NP_000226.2:n.823-23A=
NM_001127605.2:c.823-23A= NP_001121077.1:n.823-23A=
NM_001288979.1:c.475-23A= NP_001275908.1:n.475-23A=
XM_024448023.1:c.823-23A= XP_024303791.1:n.823-23A=
NM_000235.4:c.823-23A= MANE Select NP_000226.2:n.823-23A=
NM_001127605.3:c.823-23A= NP_001121077.1:n.823-23A=
NM_001288979.2:c.475-23A= NP_001275908.1:n.475-23A=