Canonical Allele Identifier: CA10606471

Gene: LIPA

Linked Data

• ClinVar Variation Id: 289532
• ClinVar RCV Id: RCV000406448 ; RCV002446532 ; RCV001430761
• dbSNP Id: rs886044197
• gnomAD v4: 10-89222520-G-A
• MyVariant Identifiers: chr10:g.90982277G>A (hg19) ; chr10:g.89222520G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89222520G>A , CM000672.2:g.89222520G>A	GRCh38
NC_000010.10:g.90982277G>A , CM000672.1:g.90982277G>A	GRCh37
NC_000010.9:g.90972257G>A	NCBI36
NG_008194.1:g.34384C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336233.10:c.885C>T MANE Select	ENSP00000337354.5:p.His295=
ENST00000336233.9:c.885C>T	ENSP00000337354.5:p.His295=
ENST00000371837.5:c.717C>T	ENSP00000360903.1:p.His239=
ENST00000456827.5:c.537C>T	ENSP00000413019.2:p.His179=
NM_000235.3:c.885C>T	NP_000226.2:p.His295=
NM_001127605.2:c.885C>T	NP_001121077.1:p.His295=
NM_001288979.1:c.537C>T	NP_001275908.1:p.His179=
XM_024448023.1:c.885C>T	XP_024303791.1:p.His295=
NM_000235.4:c.885C>T MANE Select	NP_000226.2:p.His295=
NM_001127605.3:c.885C>T	NP_001121077.1:p.His295=
NM_001288979.2:c.537C>T	NP_001275908.1:p.His179=