Canonical Allele Identifier: CA1926729565
Gene: LIPA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.89214119T= , CM000672.2:g.89214119T= GRCh38
NC_000010.10:g.90973876T= , CM000672.1:g.90973876T= GRCh37
NC_000010.9:g.90963856T= NCBI36
NG_008194.1:g.42785A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000336233.10:c.*709A= MANE Select ENSP00000337354.5:n.*709A=
ENST00000336233.9:c.*709A= ENSP00000337354.5:n.*709A=
ENST00000371837.5:c.*709A= ENSP00000360903.1:n.*709A=
ENST00000456827.5:c.*709A= ENSP00000413019.2:n.*709A=
NM_000235.3:c.*709A= NP_000226.2:n.*709A=
NM_001127605.2:c.*709A= NP_001121077.1:n.*709A=
NM_001288979.1:c.*709A= NP_001275908.1:n.*709A=
XM_024448023.1:c.*709A= XP_024303791.1:n.*709A=
NM_000235.4:c.*709A= MANE Select NP_000226.2:n.*709A=
NM_001127605.3:c.*709A= NP_001121077.1:n.*709A=
NM_001288979.2:c.*709A= NP_001275908.1:n.*709A=