Canonical Allele Identifier: CA1926748057
Gene: LIPA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.89247499T= , CM000672.2:g.89247499T= GRCh38
NC_000010.10:g.91007256T= , CM000672.1:g.91007256T= GRCh37
NC_000010.9:g.90997236T= NCBI36
NG_008194.1:g.9405A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000336233.10:c.111+39A= MANE Select ENSP00000337354.5:n.111+39A=
ENST00000282673.5:c.111+39A= ENSP00000282673.4:n.111+39A=
ENST00000336233.9:c.111+39A= ENSP00000337354.5:n.111+39A=
ENST00000371837.5:c.62-19101A= ENSP00000360903.1:n.62-19101A=
ENST00000428800.5:c.111+39A= ENSP00000388415.1:n.111+39A=
ENST00000456827.5:c.-120+4238A= ENSP00000413019.2:n.-120+4238A=
NM_000235.3:c.111+39A= NP_000226.2:n.111+39A=
NM_001127605.2:c.111+39A= NP_001121077.1:n.111+39A=
NM_001288979.1:c.-120+4238A= NP_001275908.1:n.-120+4238A=
XM_024448023.1:c.111+39A= XP_024303791.1:n.111+39A=
NM_000235.4:c.111+39A= MANE Select NP_000226.2:n.111+39A=
NM_001127605.3:c.111+39A= NP_001121077.1:n.111+39A=
NM_001288979.2:c.-120+4238A= NP_001275908.1:n.-120+4238A=