Canonical Allele Identifier: CA470737566

Gene: LIPA

Linked Data

• ClinVar Variation Id: 1763766
• ClinVar RCV Id: RCV002447807
• MyVariant Identifiers: chr10:g.90982310A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89222553A>G , CM000672.2:g.89222553A>G	GRCh38
NC_000010.10:g.90982310A>G , CM000672.1:g.90982310A>G	GRCh37
NC_000010.9:g.90972290A>G	NCBI36
NG_008194.1:g.34351T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336233.10:c.852T>C MANE Select	ENSP00000337354.5:p.Ser284=
ENST00000336233.9:c.852T>C	ENSP00000337354.5:p.Ser284=
ENST00000371837.5:c.684T>C	ENSP00000360903.1:p.Ser228=
ENST00000428800.5:c.852T>C	ENSP00000388415.1:p.Ser284=
ENST00000456827.5:c.504T>C	ENSP00000413019.2:p.Ser168=
NM_000235.3:c.852T>C	NP_000226.2:p.Ser284=
NM_001127605.2:c.852T>C	NP_001121077.1:p.Ser284=
NM_001288979.1:c.504T>C	NP_001275908.1:p.Ser168=
XM_024448023.1:c.852T>C	XP_024303791.1:p.Ser284=
NM_000235.4:c.852T>C MANE Select	NP_000226.2:p.Ser284=
NM_001127605.3:c.852T>C	NP_001121077.1:p.Ser284=
NM_001288979.2:c.504T>C	NP_001275908.1:p.Ser168=