Canonical Allele Identifier: CA247503

Gene: LIPA

Linked Data

• ClinVar Variation Id: 198700
• ClinVar RCV Id: RCV000180114 ; RCV003165377 ; RCV002516811 ; RCV004539691
• dbSNP Id: rs147426329
• ExAC: 10:90982273 T / C
• gnomAD v2: 10-90982273-T-C
• gnomAD v3: 10-89222516-T-C
• gnomAD v4: 10-89222516-T-C
• MyVariant Identifiers: chr10:g.90982273T>C (hg19) ; chr10:g.89222516T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89222516T>C , CM000672.2:g.89222516T>C	GRCh38
NC_000010.10:g.90982273T>C , CM000672.1:g.90982273T>C	GRCh37
NC_000010.9:g.90972253T>C	NCBI36
NG_008194.1:g.34388A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336233.10:c.889A>G MANE Select	ENSP00000337354.5:p.Ser297Gly
ENST00000336233.9:c.889A>G	ENSP00000337354.5:p.Ser297Gly
ENST00000371837.5:c.721A>G	ENSP00000360903.1:p.Ser241Gly
ENST00000456827.5:c.541A>G	ENSP00000413019.2:p.Ser181Gly
NM_000235.3:c.889A>G	NP_000226.2:p.Ser297Gly
NM_001127605.2:c.889A>G	NP_001121077.1:p.Ser297Gly
NM_001288979.1:c.541A>G	NP_001275908.1:p.Ser181Gly
XM_024448023.1:c.889A>G	XP_024303791.1:p.Ser297Gly
NM_000235.4:c.889A>G MANE Select	NP_000226.2:p.Ser297Gly
NM_001127605.3:c.889A>G	NP_001121077.1:p.Ser297Gly
NM_001288979.2:c.541A>G	NP_001275908.1:p.Ser181Gly