Canonical Allele Identifier: CA5593752
Gene: LIPA HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.89228249G>A
GRCh37 chr10:g.90988006G>A
Revel Score:
ENST00000336233 (MANE Select) 0.426
ENST00000371837 0.426
ENST00000371829 0.426
ENST00000541980 0.426
ENST00000354621 0.426
ENST00000456827 0.426
ENST00000425287 0.426
ENST00000542307 0.426
ENST00000428800 0.426
ENST00000282673 0.426
gnomAD v2:
10:90988006 G / A
gnomAD v3:
10:89228249 G / A
gnomAD v4:
chr10-89228249-G-A
Joint Max Group AF 0.00008158 (AFR)
Genomes Max Group AF 0.00004742 (AFR)
Exomes Max Group AF 0.00007713 (AFR)
ClinVar RCV:
RCV000633314
RCV002509479
ClinVar Variation:
528226
dbSNP:
140686447
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.89228249G>A , CM000672.2:g.89228249G>A GRCh38
NC_000010.10:g.90988006G>A , CM000672.1:g.90988006G>A GRCh37
NC_000010.9:g.90977986G>A NCBI36
NG_008194.1:g.28655C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000336233.10:c.379C>T MANE Select ENSP00000337354.5:p.Arg127Trp
ENST00000282673.5:c.379C>T ENSP00000282673.4:p.Arg127Trp
ENST00000336233.9:c.379C>T ENSP00000337354.5:p.Arg127Trp
ENST00000371837.5:c.211C>T ENSP00000360903.1:p.Arg71Trp
ENST00000428800.5:c.379C>T ENSP00000388415.1:p.Arg127Trp
ENST00000456827.5:c.31C>T ENSP00000413019.2:p.Arg11Trp
NM_000235.3:c.379C>T NP_000226.2:p.Arg127Trp
NM_001127605.2:c.379C>T NP_001121077.1:p.Arg127Trp
NM_001288979.1:c.31C>T NP_001275908.1:p.Arg11Trp
XM_024448023.1:c.379C>T XP_024303791.1:p.Arg127Trp
NM_000235.4:c.379C>T MANE Select NP_000226.2:p.Arg127Trp
NM_001127605.3:c.379C>T NP_001121077.1:p.Arg127Trp
NM_001288979.2:c.31C>T NP_001275908.1:p.Arg11Trp
Search 100 bp 5'
Search 100 bp 3'