Canonical Allele Identifier: CA377517818

Gene: LIPA

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89228242T>C , CM000672.2:g.89228242T>C	GRCh38
NC_000010.10:g.90987999T>C , CM000672.1:g.90987999T>C	GRCh37
NC_000010.9:g.90977979T>C	NCBI36
NG_008194.1:g.28662A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000235.4:c.386A>G MANE Select	NP_000226.2:p.His129Arg
ENST00000336233.10:c.386A>G MANE Select	ENSP00000337354.5:p.His129Arg
NM_000235.3:c.386A>G	NP_000226.2:p.His129Arg
NM_001127605.2:c.386A>G	NP_001121077.1:p.His129Arg
NM_001127605.3:c.386A>G	NP_001121077.1:p.His129Arg
NM_001288979.1:c.38A>G	NP_001275908.1:p.His13Arg
NM_001288979.2:c.38A>G	NP_001275908.1:p.His13Arg
ENST00000282673.5:c.386A>G	ENSP00000282673.4:p.His129Arg
ENST00000336233.9:c.386A>G	ENSP00000337354.5:p.His129Arg
ENST00000371837.5:c.218A>G	ENSP00000360903.1:p.His73Arg
ENST00000428800.5:c.386A>G	ENSP00000388415.1:p.His129Arg
ENST00000456827.5:c.38A>G	ENSP00000413019.2:p.His13Arg
XM_024448023.1:c.386A>G	XP_024303791.1:p.His129Arg