Canonical Allele Identifier: CA5593776

Gene: LIPA

Linked Data

• ClinVar Variation Id: 301583
• ClinVar RCV Id: RCV000260985 ; RCV001093932
• dbSNP Id: rs199978109
• ExAC: 10:90988170 T / C
• gnomAD v2: 10-90988170-T-C
• gnomAD v3: 10-89228413-T-C
• gnomAD v4: 10-89228413-T-C
• MyVariant Identifiers: chr10:g.90988170T>C (hg19) ; chr10:g.89228413T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89228413T>C , CM000672.2:g.89228413T>C	GRCh38
NC_000010.10:g.90988170T>C , CM000672.1:g.90988170T>C	GRCh37
NC_000010.9:g.90978150T>C	NCBI36
NG_008194.1:g.28491A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336233.10:c.230-15A>G MANE Select	ENSP00000337354.5:n.230-15A>G
ENST00000282673.5:c.230-15A>G	ENSP00000282673.4:n.230-15A>G
ENST00000336233.9:c.230-15A>G	ENSP00000337354.5:n.230-15A>G
ENST00000371837.5:c.62-15A>G	ENSP00000360903.1:n.62-15A>G
ENST00000428800.5:c.230-15A>G	ENSP00000388415.1:n.230-15A>G
ENST00000456827.5:c.-119-15A>G	ENSP00000413019.2:n.-119-15A>G
NM_000235.3:c.230-15A>G	NP_000226.2:n.230-15A>G
NM_001127605.2:c.230-15A>G	NP_001121077.1:n.230-15A>G
NM_001288979.1:c.-119-15A>G	NP_001275908.1:n.-119-15A>G
XM_024448023.1:c.230-15A>G	XP_024303791.1:n.230-15A>G
NM_000235.4:c.230-15A>G MANE Select	NP_000226.2:n.230-15A>G
NM_001127605.3:c.230-15A>G	NP_001121077.1:n.230-15A>G
NM_001288979.2:c.-119-15A>G	NP_001275908.1:n.-119-15A>G