Canonical Allele Identifier: CA10632848

Gene: LIPA

Linked Data

• ClinVar Variation Id: 301578
• ClinVar RCV Id: RCV000338003 ; RCV001094047
• dbSNP Id: rs886047471
• MyVariant Identifiers: chr10:g.90983601A>T (hg19) ; chr10:g.89223844A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89223844A>T , CM000672.2:g.89223844A>T	GRCh38
NC_000010.10:g.90983601A>T , CM000672.1:g.90983601A>T	GRCh37
NC_000010.9:g.90973581A>T	NCBI36
NG_008194.1:g.33060T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336233.10:c.676-14T>A MANE Select	ENSP00000337354.5:n.676-14T>A
ENST00000336233.9:c.676-14T>A	ENSP00000337354.5:n.676-14T>A
ENST00000371837.5:c.508-14T>A	ENSP00000360903.1:n.508-14T>A
ENST00000428800.5:c.676-14T>A	ENSP00000388415.1:n.676-14T>A
ENST00000456827.5:c.328-14T>A	ENSP00000413019.2:n.328-14T>A
NM_000235.3:c.676-14T>A	NP_000226.2:n.676-14T>A
NM_001127605.2:c.676-14T>A	NP_001121077.1:n.676-14T>A
NM_001288979.1:c.328-14T>A	NP_001275908.1:n.328-14T>A
XM_024448023.1:c.676-14T>A	XP_024303791.1:n.676-14T>A
NM_000235.4:c.676-14T>A MANE Select	NP_000226.2:n.676-14T>A
NM_001127605.3:c.676-14T>A	NP_001121077.1:n.676-14T>A
NM_001288979.2:c.328-14T>A	NP_001275908.1:n.328-14T>A