Canonical Allele Identifier: CA377516730

Gene: LIPA

Linked Data

• MyVariant Identifiers: chr10:g.90982309G>T (hg19) ; chr10:g.89222552G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89222552G>T , CM000672.2:g.89222552G>T	GRCh38
NC_000010.10:g.90982309G>T , CM000672.1:g.90982309G>T	GRCh37
NC_000010.9:g.90972289G>T	NCBI36
NG_008194.1:g.34352C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336233.10:c.853C>A MANE Select	ENSP00000337354.5:p.Pro285Thr
ENST00000336233.9:c.853C>A	ENSP00000337354.5:p.Pro285Thr
ENST00000371837.5:c.685C>A	ENSP00000360903.1:p.Pro229Thr
ENST00000428800.5:c.853C>A	ENSP00000388415.1:p.Pro285Thr
ENST00000456827.5:c.505C>A	ENSP00000413019.2:p.Pro169Thr
NM_000235.3:c.853C>A	NP_000226.2:p.Pro285Thr
NM_001127605.2:c.853C>A	NP_001121077.1:p.Pro285Thr
NM_001288979.1:c.505C>A	NP_001275908.1:p.Pro169Thr
XM_024448023.1:c.853C>A	XP_024303791.1:p.Pro285Thr
NM_000235.4:c.853C>A MANE Select	NP_000226.2:p.Pro285Thr
NM_001127605.3:c.853C>A	NP_001121077.1:p.Pro285Thr
NM_001288979.2:c.505C>A	NP_001275908.1:p.Pro169Thr