Canonical Allele Identifier: CA5593501

Gene: LIPA

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89214900G>A , CM000672.2:g.89214900G>A	GRCh38
NC_000010.10:g.90974657G>A , CM000672.1:g.90974657G>A	GRCh37
NC_000010.9:g.90964637G>A	NCBI36
NG_008194.1:g.42004C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000235.4:c.1128C>T MANE Select	NP_000226.2:p.Asp376=
ENST00000336233.10:c.1128C>T MANE Select	ENSP00000337354.5:p.Asp376=
NM_000235.3:c.1128C>T	NP_000226.2:p.Asp376=
NM_001127605.2:c.1128C>T	NP_001121077.1:p.Asp376=
NM_001127605.3:c.1128C>T	NP_001121077.1:p.Asp376=
NM_001288979.1:c.780C>T	NP_001275908.1:p.Asp260=
NM_001288979.2:c.780C>T	NP_001275908.1:p.Asp260=
ENST00000336233.9:c.1128C>T	ENSP00000337354.5:p.Asp376=
ENST00000371837.5:c.960C>T	ENSP00000360903.1:p.Asp320=
ENST00000456827.5:c.780C>T	ENSP00000413019.2:p.Asp260=
XM_024448023.1:c.1128C>T	XP_024303791.1:p.Asp376=