Canonical Allele Identifier: CA930994269

Gene: LIPA

Linked Data

• dbSNP Id: rs1029397582
• gnomAD v3: 10-89243108-C-A
• gnomAD v4: 10-89243108-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89243108C>A , CM000672.2:g.89243108C>A	GRCh38
NC_000010.10:g.91002865C>A , CM000672.1:g.91002865C>A	GRCh37
NC_000010.9:g.90992845C>A	NCBI36
NG_008194.1:g.13796G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336233.10:c.229+2568G>T MANE Select	ENSP00000337354.5:n.229+2568G>T
ENST00000282673.5:c.229+2568G>T	ENSP00000282673.4:n.229+2568G>T
ENST00000336233.9:c.229+2568G>T	ENSP00000337354.5:n.229+2568G>T
ENST00000371837.5:c.62-14710G>T	ENSP00000360903.1:n.62-14710G>T
ENST00000428800.5:c.229+2568G>T	ENSP00000388415.1:n.229+2568G>T
ENST00000456827.5:c.-120+8629G>T	ENSP00000413019.2:n.-120+8629G>T
NM_000235.3:c.229+2568G>T	NP_000226.2:n.229+2568G>T
NM_001127605.2:c.229+2568G>T	NP_001121077.1:n.229+2568G>T
NM_001288979.1:c.-120+8629G>T	NP_001275908.1:n.-120+8629G>T
XM_024448023.1:c.229+2568G>T	XP_024303791.1:n.229+2568G>T
NM_000235.4:c.229+2568G>T MANE Select	NP_000226.2:n.229+2568G>T
NM_001127605.3:c.229+2568G>T	NP_001121077.1:n.229+2568G>T
NM_001288979.2:c.-120+8629G>T	NP_001275908.1:n.-120+8629G>T