Canonical Allele Identifier: CA377518667
Gene: LIPA HGNC NCBI

Linked Data

dbSNP Id: rs759457345

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.89247645T>C , CM000672.2:g.89247645T>C GRCh38
NC_000010.10:g.91007402T>C , CM000672.1:g.91007402T>C GRCh37
NC_000010.9:g.90997382T>C NCBI36
NG_008194.1:g.9259A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000336233.10:c.4A>G MANE Select ENSP00000337354.5:p.Lys2Glu
ENST00000282673.5:c.4A>G ENSP00000282673.4:p.Lys2Glu
ENST00000336233.9:c.4A>G ENSP00000337354.5:p.Lys2Glu
ENST00000371837.5:c.62-19247A>G ENSP00000360903.1:n.62-19247A>G
ENST00000428800.5:c.4A>G ENSP00000388415.1:p.Lys2Glu
ENST00000456827.5:c.-120+4092A>G ENSP00000413019.2:n.-120+4092A>G
NM_000235.3:c.4A>G NP_000226.2:p.Lys2Glu
NM_001127605.2:c.4A>G NP_001121077.1:p.Lys2Glu
NM_001288979.1:c.-120+4092A>G NP_001275908.1:n.-120+4092A>G
XM_024448023.1:c.4A>G XP_024303791.1:p.Lys2Glu
NM_000235.4:c.4A>G MANE Select NP_000226.2:p.Lys2Glu
NM_001127605.3:c.4A>G NP_001121077.1:p.Lys2Glu
NM_001288979.2:c.-120+4092A>G NP_001275908.1:n.-120+4092A>G