Canonical Allele Identifier: CA377516040

Gene: LIPA

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89214883T>A , CM000672.2:g.89214883T>A	GRCh38
NC_000010.10:g.90974640T>A , CM000672.1:g.90974640T>A	GRCh37
NC_000010.9:g.90964620T>A	NCBI36
NG_008194.1:g.42021A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000235.4:c.1145A>T MANE Select	NP_000226.2:p.Asp382Val
ENST00000336233.10:c.1145A>T MANE Select	ENSP00000337354.5:p.Asp382Val
NM_000235.3:c.1145A>T	NP_000226.2:p.Asp382Val
NM_001127605.2:c.1145A>T	NP_001121077.1:p.Asp382Val
NM_001127605.3:c.1145A>T	NP_001121077.1:p.Asp382Val
NM_001288979.1:c.797A>T	NP_001275908.1:p.Asp266Val
NM_001288979.2:c.797A>T	NP_001275908.1:p.Asp266Val
ENST00000336233.9:c.1145A>T	ENSP00000337354.5:p.Asp382Val
ENST00000371837.5:c.977A>T	ENSP00000360903.1:p.Asp326Val
ENST00000456827.5:c.797A>T	ENSP00000413019.2:p.Asp266Val
XM_024448023.1:c.1145A>T	XP_024303791.1:p.Asp382Val