Canonical Allele Identifier: CA1926748131
Gene: LIPA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.89247673T= , CM000672.2:g.89247673T= GRCh38
NC_000010.10:g.91007430T= , CM000672.1:g.91007430T= GRCh37
NC_000010.9:g.90997410T= NCBI36
NG_008194.1:g.9231A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000336233.10:c.-1-24A= MANE Select ENSP00000337354.5:n.-1-24A=
ENST00000282673.5:c.-1-24A= ENSP00000282673.4:n.-1-24A=
ENST00000336233.9:c.-1-24A= ENSP00000337354.5:n.-1-24A=
ENST00000371837.5:c.62-19275A= ENSP00000360903.1:n.62-19275A=
ENST00000428800.5:c.-25A= ENSP00000388415.1:n.-25A=
ENST00000456827.5:c.-120+4064A= ENSP00000413019.2:n.-120+4064A=
NM_000235.3:c.-1-24A= NP_000226.2:n.-1-24A=
NM_001127605.2:c.-1-24A= NP_001121077.1:n.-1-24A=
NM_001288979.1:c.-120+4064A= NP_001275908.1:n.-120+4064A=
XM_024448023.1:c.-1-24A= XP_024303791.1:n.-1-24A=
NM_000235.4:c.-1-24A= MANE Select NP_000226.2:n.-1-24A=
NM_001127605.3:c.-1-24A= NP_001121077.1:n.-1-24A=
NM_001288979.2:c.-120+4064A= NP_001275908.1:n.-120+4064A=