Canonical Allele Identifier: CA470975274

Gene: LIPA

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89214861A>G , CM000672.2:g.89214861A>G	GRCh38
NC_000010.10:g.90974618A>G , CM000672.1:g.90974618A>G	GRCh37
NC_000010.9:g.90964598A>G	NCBI36
NG_008194.1:g.42043T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000235.4:c.1167T>C MANE Select	NP_000226.2:p.Asn389=
ENST00000336233.10:c.1167T>C MANE Select	ENSP00000337354.5:p.Asn389=
NM_000235.3:c.1167T>C	NP_000226.2:p.Asn389=
NM_001127605.2:c.1167T>C	NP_001121077.1:p.Asn389=
NM_001127605.3:c.1167T>C	NP_001121077.1:p.Asn389=
NM_001288979.1:c.819T>C	NP_001275908.1:p.Asn273=
NM_001288979.2:c.819T>C	NP_001275908.1:p.Asn273=
ENST00000336233.9:c.1167T>C	ENSP00000337354.5:p.Asn389=
ENST00000371837.5:c.999T>C	ENSP00000360903.1:p.Asn333=
ENST00000456827.5:c.819T>C	ENSP00000413019.2:p.Asn273=
XM_024448023.1:c.1167T>C	XP_024303791.1:p.Asn389=