Canonical Allele Identifier: CA377518597
Gene: LIPA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.89247612C>G , CM000672.2:g.89247612C>G GRCh38
NC_000010.10:g.91007369C>G , CM000672.1:g.91007369C>G GRCh37
NC_000010.9:g.90997349C>G NCBI36
NG_008194.1:g.9292G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000336233.10:c.37G>C MANE Select ENSP00000337354.5:p.Val13Leu
ENST00000282673.5:c.37G>C ENSP00000282673.4:p.Val13Leu
ENST00000336233.9:c.37G>C ENSP00000337354.5:p.Val13Leu
ENST00000371837.5:c.62-19214G>C ENSP00000360903.1:n.62-19214G>C
ENST00000428800.5:c.37G>C ENSP00000388415.1:p.Val13Leu
ENST00000456827.5:c.-120+4125G>C ENSP00000413019.2:n.-120+4125G>C
NM_000235.3:c.37G>C NP_000226.2:p.Val13Leu
NM_001127605.2:c.37G>C NP_001121077.1:p.Val13Leu
NM_001288979.1:c.-120+4125G>C NP_001275908.1:n.-120+4125G>C
XM_024448023.1:c.37G>C XP_024303791.1:p.Val13Leu
NM_000235.4:c.37G>C MANE Select NP_000226.2:p.Val13Leu
NM_001127605.3:c.37G>C NP_001121077.1:p.Val13Leu
NM_001288979.2:c.-120+4125G>C NP_001275908.1:n.-120+4125G>C