Canonical Allele Identifier: CA2610080527

Gene: LIPA

Linked Data

• gnomAD v4: 10-89222400-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89222400C>A , CM000672.2:g.89222400C>A	GRCh38
NC_000010.10:g.90982157C>A , CM000672.1:g.90982157C>A	GRCh37
NC_000010.9:g.90972137C>A	NCBI36
NG_008194.1:g.34504G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336233.10:c.894+111G>T MANE Select	ENSP00000337354.5:n.894+111G>T
ENST00000336233.9:c.894+111G>T	ENSP00000337354.5:n.894+111G>T
ENST00000371837.5:c.726+111G>T	ENSP00000360903.1:n.726+111G>T
ENST00000456827.5:c.546+111G>T	ENSP00000413019.2:n.546+111G>T
NM_000235.3:c.894+111G>T	NP_000226.2:n.894+111G>T
NM_001127605.2:c.894+111G>T	NP_001121077.1:n.894+111G>T
NM_001288979.1:c.546+111G>T	NP_001275908.1:n.546+111G>T
XM_024448023.1:c.894+111G>T	XP_024303791.1:n.894+111G>T
NM_000235.4:c.894+111G>T MANE Select	NP_000226.2:n.894+111G>T
NM_001127605.3:c.894+111G>T	NP_001121077.1:n.894+111G>T
NM_001288979.2:c.546+111G>T	NP_001275908.1:n.546+111G>T