Canonical Allele Identifier: CA5593687

Gene: LIPA

Linked Data

• ClinVar Variation Id: 301581
• ClinVar RCV Id: RCV000310076 ; RCV000733561 ; RCV000944060 ; RCV004544509
• dbSNP Id: rs201898154
• ExAC: 10:90984991 A / G
• gnomAD v2: 10-90984991-A-G
• gnomAD v3: 10-89225234-A-G
• gnomAD v4: 10-89225234-A-G
• MyVariant Identifiers: chr10:g.90984991A>G (hg19) ; chr10:g.89225234A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89225234A>G , CM000672.2:g.89225234A>G	GRCh38
NC_000010.10:g.90984991A>G , CM000672.1:g.90984991A>G	GRCh37
NC_000010.9:g.90974971A>G	NCBI36
NG_008194.1:g.31670T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336233.10:c.539-6T>C MANE Select	ENSP00000337354.5:n.539-6T>C
ENST00000282673.5:c.539-6T>C	ENSP00000282673.4:n.539-6T>C
ENST00000336233.9:c.539-6T>C	ENSP00000337354.5:n.539-6T>C
ENST00000371837.5:c.371-6T>C	ENSP00000360903.1:n.371-6T>C
ENST00000428800.5:c.539-6T>C	ENSP00000388415.1:n.539-6T>C
ENST00000456827.5:c.191-6T>C	ENSP00000413019.2:n.191-6T>C
NM_000235.3:c.539-6T>C	NP_000226.2:n.539-6T>C
NM_001127605.2:c.539-6T>C	NP_001121077.1:n.539-6T>C
NM_001288979.1:c.191-6T>C	NP_001275908.1:n.191-6T>C
XM_024448023.1:c.539-6T>C	XP_024303791.1:n.539-6T>C
NM_000235.4:c.539-6T>C MANE Select	NP_000226.2:n.539-6T>C
NM_001127605.3:c.539-6T>C	NP_001121077.1:n.539-6T>C
NM_001288979.2:c.191-6T>C	NP_001275908.1:n.191-6T>C