Canonical Allele Identifier: CA377516791

Gene: LIPA

Linked Data

• MyVariant Identifiers: chr10:g.90982338G>C (hg19) ; chr10:g.89222581G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89222581G>C , CM000672.2:g.89222581G>C	GRCh38
NC_000010.10:g.90982338G>C , CM000672.1:g.90982338G>C	GRCh37
NC_000010.9:g.90972318G>C	NCBI36
NG_008194.1:g.34323C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336233.10:c.824C>G MANE Select	ENSP00000337354.5:p.Ser275Cys
ENST00000336233.9:c.824C>G	ENSP00000337354.5:p.Ser275Cys
ENST00000371837.5:c.656C>G	ENSP00000360903.1:p.Ser219Cys
ENST00000428800.5:c.824C>G	ENSP00000388415.1:p.Ser275Cys
ENST00000456827.5:c.476C>G	ENSP00000413019.2:p.Ser159Cys
NM_000235.3:c.824C>G	NP_000226.2:p.Ser275Cys
NM_001127605.2:c.824C>G	NP_001121077.1:p.Ser275Cys
NM_001288979.1:c.476C>G	NP_001275908.1:p.Ser159Cys
XM_024448023.1:c.824C>G	XP_024303791.1:p.Ser275Cys
NM_000235.4:c.824C>G MANE Select	NP_000226.2:p.Ser275Cys
NM_001127605.3:c.824C>G	NP_001121077.1:p.Ser275Cys
NM_001288979.2:c.476C>G	NP_001275908.1:p.Ser159Cys