Canonical Allele Identifier: CA1926748169

Gene: LIPA

Linked Data

• dbSNP Id: rs1843048580
• gnomAD v4: 10-89247771-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89247771A>G , CM000672.2:g.89247771A>G	GRCh38
NC_000010.10:g.91007528A>G , CM000672.1:g.91007528A>G	GRCh37
NC_000010.9:g.90997508A>G	NCBI36
NG_008194.1:g.9133T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336233.10:c.-1-122T>C MANE Select	ENSP00000337354.5:n.-1-122T>C
ENST00000282673.5:c.-1-122T>C	ENSP00000282673.4:n.-1-122T>C
ENST00000336233.9:c.-1-122T>C	ENSP00000337354.5:n.-1-122T>C
ENST00000371837.5:c.62-19373T>C	ENSP00000360903.1:n.62-19373T>C
ENST00000428800.5:c.-123T>C	ENSP00000388415.1:n.-123T>C
ENST00000456827.5:c.-120+3966T>C	ENSP00000413019.2:n.-120+3966T>C
NM_000235.3:c.-1-122T>C	NP_000226.2:n.-1-122T>C
NM_001127605.2:c.-1-122T>C	NP_001121077.1:n.-1-122T>C
NM_001288979.1:c.-120+3966T>C	NP_001275908.1:n.-120+3966T>C
XM_024448023.1:c.-1-122T>C	XP_024303791.1:n.-1-122T>C
NM_000235.4:c.-1-122T>C MANE Select	NP_000226.2:n.-1-122T>C
NM_001127605.3:c.-1-122T>C	NP_001121077.1:n.-1-122T>C
NM_001288979.2:c.-120+3966T>C	NP_001275908.1:n.-120+3966T>C