Canonical Allele Identifier: CA377518421

Gene: LIPA

Linked Data

• MyVariant Identifiers: chr10:g.91005547C>G (hg19) ; chr10:g.89245790C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89245790C>G , CM000672.2:g.89245790C>G	GRCh38
NC_000010.10:g.91005547C>G , CM000672.1:g.91005547C>G	GRCh37
NC_000010.9:g.90995527C>G	NCBI36
NG_008194.1:g.11114G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336233.10:c.115G>C MANE Select	ENSP00000337354.5:p.Glu39Gln
ENST00000282673.5:c.115G>C	ENSP00000282673.4:p.Glu39Gln
ENST00000336233.9:c.115G>C	ENSP00000337354.5:p.Glu39Gln
ENST00000371837.5:c.62-17392G>C	ENSP00000360903.1:n.62-17392G>C
ENST00000428800.5:c.115G>C	ENSP00000388415.1:p.Glu39Gln
ENST00000456827.5:c.-120+5947G>C	ENSP00000413019.2:n.-120+5947G>C
NM_000235.3:c.115G>C	NP_000226.2:p.Glu39Gln
NM_001127605.2:c.115G>C	NP_001121077.1:p.Glu39Gln
NM_001288979.1:c.-120+5947G>C	NP_001275908.1:n.-120+5947G>C
XM_024448023.1:c.115G>C	XP_024303791.1:p.Glu39Gln
NM_000235.4:c.115G>C MANE Select	NP_000226.2:p.Glu39Gln
NM_001127605.3:c.115G>C	NP_001121077.1:p.Glu39Gln
NM_001288979.2:c.-120+5947G>C	NP_001275908.1:n.-120+5947G>C