Canonical Allele Identifier: CA1926748081
Gene: LIPA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.89247546T= , CM000672.2:g.89247546T= GRCh38
NC_000010.10:g.91007303T= , CM000672.1:g.91007303T= GRCh37
NC_000010.9:g.90997283T= NCBI36
NG_008194.1:g.9358A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000336233.10:c.103A= MANE Select ENSP00000337354.5:p.Met35=
ENST00000282673.5:c.103A= ENSP00000282673.4:p.Met35=
ENST00000336233.9:c.103A= ENSP00000337354.5:p.Met35=
ENST00000371837.5:c.62-19148A= ENSP00000360903.1:n.62-19148A=
ENST00000428800.5:c.103A= ENSP00000388415.1:p.Met35=
ENST00000456827.5:c.-120+4191A= ENSP00000413019.2:n.-120+4191A=
NM_000235.3:c.103A= NP_000226.2:p.Met35=
NM_001127605.2:c.103A= NP_001121077.1:p.Met35=
NM_001288979.1:c.-120+4191A= NP_001275908.1:n.-120+4191A=
XM_024448023.1:c.103A= XP_024303791.1:p.Met35=
NM_000235.4:c.103A= MANE Select NP_000226.2:p.Met35=
NM_001127605.3:c.103A= NP_001121077.1:p.Met35=
NM_001288979.2:c.-120+4191A= NP_001275908.1:n.-120+4191A=