Canonical Allele Identifier: CA1926729595
Gene: LIPA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.89214195T= , CM000672.2:g.89214195T= GRCh38
NC_000010.10:g.90973952T= , CM000672.1:g.90973952T= GRCh37
NC_000010.9:g.90963932T= NCBI36
NG_008194.1:g.42709A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000336233.10:c.*633A= MANE Select ENSP00000337354.5:n.*633A=
ENST00000336233.9:c.*633A= ENSP00000337354.5:n.*633A=
ENST00000371837.5:c.*633A= ENSP00000360903.1:n.*633A=
ENST00000456827.5:c.*633A= ENSP00000413019.2:n.*633A=
NM_000235.3:c.*633A= NP_000226.2:n.*633A=
NM_001127605.2:c.*633A= NP_001121077.1:n.*633A=
NM_001288979.1:c.*633A= NP_001275908.1:n.*633A=
XM_024448023.1:c.*633A= XP_024303791.1:n.*633A=
NM_000235.4:c.*633A= MANE Select NP_000226.2:n.*633A=
NM_001127605.3:c.*633A= NP_001121077.1:n.*633A=
NM_001288979.2:c.*633A= NP_001275908.1:n.*633A=