Canonical Allele Identifier: CA1926746278

Gene: LIPA

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89243179C= , CM000672.2:g.89243179C=	GRCh38
NC_000010.10:g.91002936C= , CM000672.1:g.91002936C=	GRCh37
NC_000010.9:g.90992916C=	NCBI36
NG_008194.1:g.13725G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336233.10:c.229+2497G= MANE Select	ENSP00000337354.5:n.229+2497G=
ENST00000282673.5:c.229+2497G=	ENSP00000282673.4:n.229+2497G=
ENST00000336233.9:c.229+2497G=	ENSP00000337354.5:n.229+2497G=
ENST00000371837.5:c.62-14781G=	ENSP00000360903.1:n.62-14781G=
ENST00000428800.5:c.229+2497G=	ENSP00000388415.1:n.229+2497G=
ENST00000456827.5:c.-120+8558G=	ENSP00000413019.2:n.-120+8558G=
NM_000235.3:c.229+2497G=	NP_000226.2:n.229+2497G=
NM_001127605.2:c.229+2497G=	NP_001121077.1:n.229+2497G=
NM_001288979.1:c.-120+8558G=	NP_001275908.1:n.-120+8558G=
XM_024448023.1:c.229+2497G=	XP_024303791.1:n.229+2497G=
NM_000235.4:c.229+2497G= MANE Select	NP_000226.2:n.229+2497G=
NM_001127605.3:c.229+2497G=	NP_001121077.1:n.229+2497G=
NM_001288979.2:c.-120+8558G=	NP_001275908.1:n.-120+8558G=