Canonical Allele Identifier: CA5593764

Gene: LIPA

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89228319G>T , CM000672.2:g.89228319G>T	GRCh38
NC_000010.10:g.90988076G>T , CM000672.1:g.90988076G>T	GRCh37
NC_000010.9:g.90978056G>T	NCBI36
NG_008194.1:g.28585C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000235.4:c.309C>A MANE Select	NP_000226.2:p.Ser103Arg
ENST00000336233.10:c.309C>A MANE Select	ENSP00000337354.5:p.Ser103Arg
NM_000235.3:c.309C>A	NP_000226.2:p.Ser103Arg
NM_001127605.2:c.309C>A	NP_001121077.1:p.Ser103Arg
NM_001127605.3:c.309C>A	NP_001121077.1:p.Ser103Arg
NM_001288979.1:c.-40C>A	NP_001275908.1:n.-40C>A
NM_001288979.2:c.-40C>A	NP_001275908.1:n.-40C>A
ENST00000282673.5:c.309C>A	ENSP00000282673.4:p.Ser103Arg
ENST00000336233.9:c.309C>A	ENSP00000337354.5:p.Ser103Arg
ENST00000371837.5:c.141C>A	ENSP00000360903.1:p.Ser47Arg
ENST00000428800.5:c.309C>A	ENSP00000388415.1:p.Ser103Arg
ENST00000456827.5:c.-40C>A	ENSP00000413019.2:n.-40C>A
XM_024448023.1:c.309C>A	XP_024303791.1:p.Ser103Arg