Canonical Allele Identifier: CA211359603
Gene: LIPA HGNC NCBI

Linked Data

dbSNP Id: rs901172492
gnomAD v2: 10-90973589-A-G
gnomAD v3: 10-89213832-A-G
gnomAD v4: 10-89213832-A-G
MyVariant Identifiers: chr10:g.90973589A>G (hg19) chr10:g.89213832A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.89213832A>G , CM000672.2:g.89213832A>G GRCh38
NC_000010.10:g.90973589A>G , CM000672.1:g.90973589A>G GRCh37
NC_000010.9:g.90963569A>G NCBI36
NG_008194.1:g.43072T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000336233.10:c.*996T>C MANE Select ENSP00000337354.5:n.*996T>C
ENST00000336233.9:c.*996T>C ENSP00000337354.5:n.*996T>C
ENST00000371837.5:c.*996T>C ENSP00000360903.1:n.*996T>C
ENST00000456827.5:c.*996T>C ENSP00000413019.2:n.*996T>C
NM_000235.3:c.*996T>C NP_000226.2:n.*996T>C
NM_001127605.2:c.*996T>C NP_001121077.1:n.*996T>C
NM_001288979.1:c.*996T>C NP_001275908.1:n.*996T>C
XM_024448023.1:c.*996T>C XP_024303791.1:n.*996T>C
NM_000235.4:c.*996T>C MANE Select NP_000226.2:n.*996T>C
NM_001127605.3:c.*996T>C NP_001121077.1:n.*996T>C
NM_001288979.2:c.*996T>C NP_001275908.1:n.*996T>C
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