Canonical Allele Identifier: CA5593593

Gene: LIPA

Linked Data

• dbSNP Id: rs768390667
• ExAC: 10:90982334 T / C
• gnomAD v2: 10-90982334-T-C
• gnomAD v4: 10-89222577-T-C
• MyVariant Identifiers: chr10:g.90982334T>C (hg19) ; chr10:g.89222577T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89222577T>C , CM000672.2:g.89222577T>C	GRCh38
NC_000010.10:g.90982334T>C , CM000672.1:g.90982334T>C	GRCh37
NC_000010.9:g.90972314T>C	NCBI36
NG_008194.1:g.34327A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336233.10:c.828A>G MANE Select	ENSP00000337354.5:p.Arg276=
ENST00000336233.9:c.828A>G	ENSP00000337354.5:p.Arg276=
ENST00000371837.5:c.660A>G	ENSP00000360903.1:p.Arg220=
ENST00000428800.5:c.828A>G	ENSP00000388415.1:p.Arg276=
ENST00000456827.5:c.480A>G	ENSP00000413019.2:p.Arg160=
NM_000235.3:c.828A>G	NP_000226.2:p.Arg276=
NM_001127605.2:c.828A>G	NP_001121077.1:p.Arg276=
NM_001288979.1:c.480A>G	NP_001275908.1:p.Arg160=
XM_024448023.1:c.828A>G	XP_024303791.1:p.Arg276=
NM_000235.4:c.828A>G MANE Select	NP_000226.2:p.Arg276=
NM_001127605.3:c.828A>G	NP_001121077.1:p.Arg276=
NM_001288979.2:c.480A>G	NP_001275908.1:p.Arg160=