Canonical Allele Identifier: CA5593529

Gene: LIPA

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89215004C>T , CM000672.2:g.89215004C>T	GRCh38
NC_000010.10:g.90974761C>T , CM000672.1:g.90974761C>T	GRCh37
NC_000010.9:g.90964741C>T	NCBI36
NG_008194.1:g.41900G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000235.4:c.1024G>A MANE Select	NP_000226.2:p.Gly342Arg
ENST00000336233.10:c.1024G>A MANE Select	ENSP00000337354.5:p.Gly342Arg
NM_000235.3:c.1024G>A	NP_000226.2:p.Gly342Arg
NM_001127605.2:c.1024G>A	NP_001121077.1:p.Gly342Arg
NM_001127605.3:c.1024G>A	NP_001121077.1:p.Gly342Arg
NM_001288979.1:c.676G>A	NP_001275908.1:p.Gly226Arg
NM_001288979.2:c.676G>A	NP_001275908.1:p.Gly226Arg
ENST00000336233.9:c.1024G>A	ENSP00000337354.5:p.Gly342Arg
ENST00000371837.5:c.856G>A	ENSP00000360903.1:p.Gly286Arg
ENST00000456827.5:c.676G>A	ENSP00000413019.2:p.Gly226Arg
XM_024448023.1:c.1024G>A	XP_024303791.1:p.Gly342Arg