Canonical Allele Identifier: CA470737545

Gene: LIPA

Linked Data

• gnomAD v4: 10-89222523-T-C
• MyVariant Identifiers: chr10:g.90982280T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89222523T>C , CM000672.2:g.89222523T>C	GRCh38
NC_000010.10:g.90982280T>C , CM000672.1:g.90982280T>C	GRCh37
NC_000010.9:g.90972260T>C	NCBI36
NG_008194.1:g.34381A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336233.10:c.882A>G MANE Select	ENSP00000337354.5:p.Leu294=
ENST00000336233.9:c.882A>G	ENSP00000337354.5:p.Leu294=
ENST00000371837.5:c.714A>G	ENSP00000360903.1:p.Leu238=
ENST00000456827.5:c.534A>G	ENSP00000413019.2:p.Leu178=
NM_000235.3:c.882A>G	NP_000226.2:p.Leu294=
NM_001127605.2:c.882A>G	NP_001121077.1:p.Leu294=
NM_001288979.1:c.534A>G	NP_001275908.1:p.Leu178=
XM_024448023.1:c.882A>G	XP_024303791.1:p.Leu294=
NM_000235.4:c.882A>G MANE Select	NP_000226.2:p.Leu294=
NM_001127605.3:c.882A>G	NP_001121077.1:p.Leu294=
NM_001288979.2:c.534A>G	NP_001275908.1:p.Leu178=