Canonical Allele Identifier: CA5593759

Gene: LIPA

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89228286G>A , CM000672.2:g.89228286G>A	GRCh38
NC_000010.10:g.90988043G>A , CM000672.1:g.90988043G>A	GRCh37
NC_000010.9:g.90978023G>A	NCBI36
NG_008194.1:g.28618C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000235.4:c.342C>T MANE Select	NP_000226.2:p.Asp114=
ENST00000336233.10:c.342C>T MANE Select	ENSP00000337354.5:p.Asp114=
NM_000235.3:c.342C>T	NP_000226.2:p.Asp114=
NM_001127605.2:c.342C>T	NP_001121077.1:p.Asp114=
NM_001127605.3:c.342C>T	NP_001121077.1:p.Asp114=
NM_001288979.1:c.-7C>T	NP_001275908.1:n.-7C>T
NM_001288979.2:c.-7C>T	NP_001275908.1:n.-7C>T
ENST00000282673.5:c.342C>T	ENSP00000282673.4:p.Asp114=
ENST00000336233.9:c.342C>T	ENSP00000337354.5:p.Asp114=
ENST00000371837.5:c.174C>T	ENSP00000360903.1:p.Asp58=
ENST00000428800.5:c.342C>T	ENSP00000388415.1:p.Asp114=
ENST00000456827.5:c.-7C>T	ENSP00000413019.2:n.-7C>T
XM_024448023.1:c.342C>T	XP_024303791.1:p.Asp114=