Canonical Allele Identifier: CA377518045

Gene: LIPA

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89228345A>G , CM000672.2:g.89228345A>G	GRCh38
NC_000010.10:g.90988102A>G , CM000672.1:g.90988102A>G	GRCh37
NC_000010.9:g.90978082A>G	NCBI36
NG_008194.1:g.28559T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000235.4:c.283T>C MANE Select	NP_000226.2:p.Trp95Arg
ENST00000336233.10:c.283T>C MANE Select	ENSP00000337354.5:p.Trp95Arg
NM_000235.3:c.283T>C	NP_000226.2:p.Trp95Arg
NM_001127605.2:c.283T>C	NP_001121077.1:p.Trp95Arg
NM_001127605.3:c.283T>C	NP_001121077.1:p.Trp95Arg
NM_001288979.1:c.-66T>C	NP_001275908.1:n.-66T>C
NM_001288979.2:c.-66T>C	NP_001275908.1:n.-66T>C
ENST00000282673.5:c.283T>C	ENSP00000282673.4:p.Trp95Arg
ENST00000336233.9:c.283T>C	ENSP00000337354.5:p.Trp95Arg
ENST00000371837.5:c.115T>C	ENSP00000360903.1:p.Trp39Arg
ENST00000428800.5:c.283T>C	ENSP00000388415.1:p.Trp95Arg
ENST00000456827.5:c.-66T>C	ENSP00000413019.2:n.-66T>C
XM_024448023.1:c.283T>C	XP_024303791.1:p.Trp95Arg