Canonical Allele Identifier: CA1926729494
Gene: LIPA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.89213954C= , CM000672.2:g.89213954C= GRCh38
NC_000010.10:g.90973711C= , CM000672.1:g.90973711C= GRCh37
NC_000010.9:g.90963691C= NCBI36
NG_008194.1:g.42950G=

Transcript Alleles

HGVS Amino-acid change
ENST00000336233.10:c.*874G= MANE Select ENSP00000337354.5:n.*874G=
ENST00000336233.9:c.*874G= ENSP00000337354.5:n.*874G=
ENST00000371837.5:c.*874G= ENSP00000360903.1:n.*874G=
ENST00000456827.5:c.*874G= ENSP00000413019.2:n.*874G=
NM_000235.3:c.*874G= NP_000226.2:n.*874G=
NM_001127605.2:c.*874G= NP_001121077.1:n.*874G=
NM_001288979.1:c.*874G= NP_001275908.1:n.*874G=
XM_024448023.1:c.*874G= XP_024303791.1:n.*874G=
NM_000235.4:c.*874G= MANE Select NP_000226.2:n.*874G=
NM_001127605.3:c.*874G= NP_001121077.1:n.*874G=
NM_001288979.2:c.*874G= NP_001275908.1:n.*874G=