Canonical Allele Identifier: CA377516661

Gene: LIPA

Linked Data

• ClinVar Variation Id: 2025546
• ClinVar RCV Id: RCV002880565
• gnomAD v4: 10-89222521-T-G
• MyVariant Identifiers: chr10:g.90982278T>G (hg19) ; chr10:g.89222521T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89222521T>G , CM000672.2:g.89222521T>G	GRCh38
NC_000010.10:g.90982278T>G , CM000672.1:g.90982278T>G	GRCh37
NC_000010.9:g.90972258T>G	NCBI36
NG_008194.1:g.34383A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336233.10:c.884A>C MANE Select	ENSP00000337354.5:p.His295Pro
ENST00000336233.9:c.884A>C	ENSP00000337354.5:p.His295Pro
ENST00000371837.5:c.716A>C	ENSP00000360903.1:p.His239Pro
ENST00000456827.5:c.536A>C	ENSP00000413019.2:p.His179Pro
NM_000235.3:c.884A>C	NP_000226.2:p.His295Pro
NM_001127605.2:c.884A>C	NP_001121077.1:p.His295Pro
NM_001288979.1:c.536A>C	NP_001275908.1:p.His179Pro
XM_024448023.1:c.884A>C	XP_024303791.1:p.His295Pro
NM_000235.4:c.884A>C MANE Select	NP_000226.2:p.His295Pro
NM_001127605.3:c.884A>C	NP_001121077.1:p.His295Pro
NM_001288979.2:c.536A>C	NP_001275908.1:p.His179Pro