Canonical Allele Identifier: CA5593823
Gene: LIPA HGNC NCBI

Linked Data

ClinVar Variation Id: 301584
dbSNP Id: rs375237841

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.89247525T>C , CM000672.2:g.89247525T>C GRCh38
NC_000010.10:g.91007282T>C , CM000672.1:g.91007282T>C GRCh37
NC_000010.9:g.90997262T>C NCBI36
NG_008194.1:g.9379A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000336233.10:c.111+13A>G MANE Select ENSP00000337354.5:n.111+13A>G
ENST00000282673.5:c.111+13A>G ENSP00000282673.4:n.111+13A>G
ENST00000336233.9:c.111+13A>G ENSP00000337354.5:n.111+13A>G
ENST00000371837.5:c.62-19127A>G ENSP00000360903.1:n.62-19127A>G
ENST00000428800.5:c.111+13A>G ENSP00000388415.1:n.111+13A>G
ENST00000456827.5:c.-120+4212A>G ENSP00000413019.2:n.-120+4212A>G
NM_000235.3:c.111+13A>G NP_000226.2:n.111+13A>G
NM_001127605.2:c.111+13A>G NP_001121077.1:n.111+13A>G
NM_001288979.1:c.-120+4212A>G NP_001275908.1:n.-120+4212A>G
XM_024448023.1:c.111+13A>G XP_024303791.1:n.111+13A>G
NM_000235.4:c.111+13A>G MANE Select NP_000226.2:n.111+13A>G
NM_001127605.3:c.111+13A>G NP_001121077.1:n.111+13A>G
NM_001288979.2:c.-120+4212A>G NP_001275908.1:n.-120+4212A>G