Canonical Allele Identifier: CA2610081393
Gene: LIPA HGNC NCBI

Linked Data

gnomAD v4: 10-89213874-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.89213874C>T , CM000672.2:g.89213874C>T GRCh38
NC_000010.10:g.90973631C>T , CM000672.1:g.90973631C>T GRCh37
NC_000010.9:g.90963611C>T NCBI36
NG_008194.1:g.43030G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000336233.10:c.*954G>A MANE Select ENSP00000337354.5:n.*954G>A
ENST00000336233.9:c.*954G>A ENSP00000337354.5:n.*954G>A
ENST00000371837.5:c.*954G>A ENSP00000360903.1:n.*954G>A
ENST00000456827.5:c.*954G>A ENSP00000413019.2:n.*954G>A
NM_000235.3:c.*954G>A NP_000226.2:n.*954G>A
NM_001127605.2:c.*954G>A NP_001121077.1:n.*954G>A
NM_001288979.1:c.*954G>A NP_001275908.1:n.*954G>A
XM_024448023.1:c.*954G>A XP_024303791.1:n.*954G>A
NM_000235.4:c.*954G>A MANE Select NP_000226.2:n.*954G>A
NM_001127605.3:c.*954G>A NP_001121077.1:n.*954G>A
NM_001288979.2:c.*954G>A NP_001275908.1:n.*954G>A
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