Canonical Allele Identifier: CA1926729589

Gene: LIPA

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89214185G= , CM000672.2:g.89214185G=	GRCh38
NC_000010.10:g.90973942G= , CM000672.1:g.90973942G=	GRCh37
NC_000010.9:g.90963922G=	NCBI36
NG_008194.1:g.42719C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336233.10:c.*643C= MANE Select	ENSP00000337354.5:n.*643C=
ENST00000336233.9:c.*643C=	ENSP00000337354.5:n.*643C=
ENST00000371837.5:c.*643C=	ENSP00000360903.1:n.*643C=
ENST00000456827.5:c.*643C=	ENSP00000413019.2:n.*643C=
NM_000235.3:c.*643C=	NP_000226.2:n.*643C=
NM_001127605.2:c.*643C=	NP_001121077.1:n.*643C=
NM_001288979.1:c.*643C=	NP_001275908.1:n.*643C=
XM_024448023.1:c.*643C=	XP_024303791.1:n.*643C=
NM_000235.4:c.*643C= MANE Select	NP_000226.2:n.*643C=
NM_001127605.3:c.*643C=	NP_001121077.1:n.*643C=
NM_001288979.2:c.*643C=	NP_001275908.1:n.*643C=