Canonical Allele Identifier: CA669676169

Gene: LIPA

Linked Data

• dbSNP Id: rs1352593642
• MyVariant Identifiers: chr10:g.90982112C>T (hg19) ; chr10:g.89222355C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89222355C>T , CM000672.2:g.89222355C>T	GRCh38
NC_000010.10:g.90982112C>T , CM000672.1:g.90982112C>T	GRCh37
NC_000010.9:g.90972092C>T	NCBI36
NG_008194.1:g.34549G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336233.10:c.894+156G>A MANE Select	ENSP00000337354.5:n.894+156G>A
ENST00000336233.9:c.894+156G>A	ENSP00000337354.5:n.894+156G>A
ENST00000371837.5:c.726+156G>A	ENSP00000360903.1:n.726+156G>A
ENST00000456827.5:c.546+156G>A	ENSP00000413019.2:n.546+156G>A
NM_000235.3:c.894+156G>A	NP_000226.2:n.894+156G>A
NM_001127605.2:c.894+156G>A	NP_001121077.1:n.894+156G>A
NM_001288979.1:c.546+156G>A	NP_001275908.1:n.546+156G>A
XM_024448023.1:c.894+156G>A	XP_024303791.1:n.894+156G>A
NM_000235.4:c.894+156G>A MANE Select	NP_000226.2:n.894+156G>A
NM_001127605.3:c.894+156G>A	NP_001121077.1:n.894+156G>A
NM_001288979.2:c.546+156G>A	NP_001275908.1:n.546+156G>A