Canonical Allele Identifier: CA377516637
Gene: LIPA HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.89222511C>G
GRCh37 chr10:g.90982268C>G
Revel Score:
ENST00000542307 0.170
ENST00000336233 (MANE Select) 0.756
ENST00000371837 0.756
ENST00000371829 0.756
ENST00000541980 0.756
ENST00000354621 0.756
ENST00000456827 0.756
ENST00000425287 0.756
gnomAD v2:
10:90982268 C / G
gnomAD v4:
chr10-89222511-C-G
Joint Max Group AF 0.00001387 (NFE)
Exomes Max Group AF 0.00001473 (NFE)
ClinVar RCV:
RCV000494734
RCV001865556
ClinVar Variation:
430634
dbSNP:
116928232
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.89222511C>G , CM000672.2:g.89222511C>G GRCh38
NC_000010.10:g.90982268C>G , CM000672.1:g.90982268C>G GRCh37
NC_000010.9:g.90972248C>G NCBI36
NG_008194.1:g.34393G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000336233.10:c.894G>C MANE Select ENSP00000337354.5:p.Gln298His
ENST00000336233.9:c.894G>C ENSP00000337354.5:p.Gln298His
ENST00000371837.5:c.726G>C ENSP00000360903.1:p.Gln242His
ENST00000456827.5:c.546G>C ENSP00000413019.2:p.Gln182His
NM_000235.3:c.894G>C NP_000226.2:p.Gln298His
NM_001127605.2:c.894G>C NP_001121077.1:p.Gln298His
NM_001288979.1:c.546G>C NP_001275908.1:p.Gln182His
XM_024448023.1:c.894G>C XP_024303791.1:p.Gln298His
NM_000235.4:c.894G>C MANE Select NP_000226.2:p.Gln298His
NM_001127605.3:c.894G>C NP_001121077.1:p.Gln298His
NM_001288979.2:c.546G>C NP_001275908.1:p.Gln182His
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