Canonical Allele Identifier: CA1926729471
Gene: LIPA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.89213916A= , CM000672.2:g.89213916A= GRCh38
NC_000010.10:g.90973673A= , CM000672.1:g.90973673A= GRCh37
NC_000010.9:g.90963653A= NCBI36
NG_008194.1:g.42988T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000336233.10:c.*912T= MANE Select ENSP00000337354.5:n.*912T=
ENST00000336233.9:c.*912T= ENSP00000337354.5:n.*912T=
ENST00000371837.5:c.*912T= ENSP00000360903.1:n.*912T=
ENST00000456827.5:c.*912T= ENSP00000413019.2:n.*912T=
NM_000235.3:c.*912T= NP_000226.2:n.*912T=
NM_001127605.2:c.*912T= NP_001121077.1:n.*912T=
NM_001288979.1:c.*912T= NP_001275908.1:n.*912T=
XM_024448023.1:c.*912T= XP_024303791.1:n.*912T=
NM_000235.4:c.*912T= MANE Select NP_000226.2:n.*912T=
NM_001127605.3:c.*912T= NP_001121077.1:n.*912T=
NM_001288979.2:c.*912T= NP_001275908.1:n.*912T=