Canonical Allele Identifier: CA5593564

Gene: LIPA

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89215982A>C , CM000672.2:g.89215982A>C	GRCh38
NC_000010.10:g.90975739A>C , CM000672.1:g.90975739A>C	GRCh37
NC_000010.9:g.90965719A>C	NCBI36
NG_008194.1:g.40922T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000235.4:c.922T>G MANE Select	NP_000226.2:p.Phe308Val
ENST00000336233.10:c.922T>G MANE Select	ENSP00000337354.5:p.Phe308Val
NM_000235.3:c.922T>G	NP_000226.2:p.Phe308Val
NM_001127605.2:c.922T>G	NP_001121077.1:p.Phe308Val
NM_001127605.3:c.922T>G	NP_001121077.1:p.Phe308Val
NM_001288979.1:c.574T>G	NP_001275908.1:p.Phe192Val
NM_001288979.2:c.574T>G	NP_001275908.1:p.Phe192Val
ENST00000336233.9:c.922T>G	ENSP00000337354.5:p.Phe308Val
ENST00000371837.5:c.754T>G	ENSP00000360903.1:p.Phe252Val
ENST00000456827.5:c.574T>G	ENSP00000413019.2:p.Phe192Val
XM_024448023.1:c.922T>G	XP_024303791.1:p.Phe308Val