Canonical Allele Identifier: CA10636860

Gene: LIPA

Linked Data

• ClinVar Variation Id: 301553
• ClinVar RCV Id: RCV000304783 ; RCV001093924
• dbSNP Id: rs755914073
• gnomAD v2: 10-90973636-G-A
• gnomAD v3: 10-89213879-G-A
• gnomAD v4: 10-89213879-G-A
• MyVariant Identifiers: chr10:g.90973636G>A (hg19) ; chr10:g.89213879G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89213879G>A , CM000672.2:g.89213879G>A	GRCh38
NC_000010.10:g.90973636G>A , CM000672.1:g.90973636G>A	GRCh37
NC_000010.9:g.90963616G>A	NCBI36
NG_008194.1:g.43025C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000336233.10:c.*949C>T MANE Select	ENSP00000337354.5:n.*949C>T
ENST00000336233.9:c.*949C>T	ENSP00000337354.5:n.*949C>T
ENST00000371837.5:c.*949C>T	ENSP00000360903.1:n.*949C>T
ENST00000456827.5:c.*949C>T	ENSP00000413019.2:n.*949C>T
NM_000235.3:c.*949C>T	NP_000226.2:n.*949C>T
NM_001127605.2:c.*949C>T	NP_001121077.1:n.*949C>T
NM_001288979.1:c.*949C>T	NP_001275908.1:n.*949C>T
XM_024448023.1:c.*949C>T	XP_024303791.1:n.*949C>T
NM_000235.4:c.*949C>T MANE Select	NP_000226.2:n.*949C>T
NM_001127605.3:c.*949C>T	NP_001121077.1:n.*949C>T
NM_001288979.2:c.*949C>T	NP_001275908.1:n.*949C>T