Canonical Allele Identifier: CA5593539
Gene: LIPA HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.89215074G>T
GRCh37 chr10:g.90974831G>T
gnomAD v2:
10:90974831 G / T
gnomAD v4:
chr10-89215074-G-T
Joint Max Group AF 0.00087167 (EAS)
Exomes Max Group AF 0.00098693 (EAS)
ClinVar Allele:
323243
ClinVar RCV:
RCV000271999
RCV001094027
ClinVar Variation:
301574
dbSNP:
762226885
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.89215074G>T , CM000672.2:g.89215074G>T GRCh38
NC_000010.10:g.90974831G>T , CM000672.1:g.90974831G>T GRCh37
NC_000010.9:g.90964811G>T NCBI36
NG_008194.1:g.41830C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000336233.10:c.967-13C>A MANE Select ENSP00000337354.5:n.967-13C>A
ENST00000336233.9:c.967-13C>A ENSP00000337354.5:n.967-13C>A
ENST00000371837.5:c.799-13C>A ENSP00000360903.1:n.799-13C>A
ENST00000456827.5:c.619-13C>A ENSP00000413019.2:n.619-13C>A
NM_000235.3:c.967-13C>A NP_000226.2:n.967-13C>A
NM_001127605.2:c.967-13C>A NP_001121077.1:n.967-13C>A
NM_001288979.1:c.619-13C>A NP_001275908.1:n.619-13C>A
XM_024448023.1:c.967-13C>A XP_024303791.1:n.967-13C>A
NM_000235.4:c.967-13C>A MANE Select NP_000226.2:n.967-13C>A
NM_001127605.3:c.967-13C>A NP_001121077.1:n.967-13C>A
NM_001288979.2:c.619-13C>A NP_001275908.1:n.619-13C>A
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