Canonical Allele Identifier: CA470737547

Gene: LIPA

Linked Data

• gnomAD v4: 10-89222529-G-A
• MyVariant Identifiers: chr10:g.90982286G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89222529G>A , CM000672.2:g.89222529G>A	GRCh38
NC_000010.10:g.90982286G>A , CM000672.1:g.90982286G>A	GRCh37
NC_000010.9:g.90972266G>A	NCBI36
NG_008194.1:g.34375C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336233.10:c.876C>T MANE Select	ENSP00000337354.5:p.Asn292=
ENST00000336233.9:c.876C>T	ENSP00000337354.5:p.Asn292=
ENST00000371837.5:c.708C>T	ENSP00000360903.1:p.Asn236=
ENST00000456827.5:c.528C>T	ENSP00000413019.2:p.Asn176=
NM_000235.3:c.876C>T	NP_000226.2:p.Asn292=
NM_001127605.2:c.876C>T	NP_001121077.1:p.Asn292=
NM_001288979.1:c.528C>T	NP_001275908.1:p.Asn176=
XM_024448023.1:c.876C>T	XP_024303791.1:p.Asn292=
NM_000235.4:c.876C>T MANE Select	NP_000226.2:p.Asn292=
NM_001127605.3:c.876C>T	NP_001121077.1:p.Asn292=
NM_001288979.2:c.528C>T	NP_001275908.1:p.Asn176=