Canonical Allele Identifier: CA2610081388
Gene: LIPA HGNC NCBI

Linked Data

gnomAD v4: 10-89213864-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.89213864G>T , CM000672.2:g.89213864G>T GRCh38
NC_000010.10:g.90973621G>T , CM000672.1:g.90973621G>T GRCh37
NC_000010.9:g.90963601G>T NCBI36
NG_008194.1:g.43040C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000336233.10:c.*964C>A MANE Select ENSP00000337354.5:n.*964C>A
ENST00000336233.9:c.*964C>A ENSP00000337354.5:n.*964C>A
ENST00000371837.5:c.*964C>A ENSP00000360903.1:n.*964C>A
ENST00000456827.5:c.*964C>A ENSP00000413019.2:n.*964C>A
NM_000235.3:c.*964C>A NP_000226.2:n.*964C>A
NM_001127605.2:c.*964C>A NP_001121077.1:n.*964C>A
NM_001288979.1:c.*964C>A NP_001275908.1:n.*964C>A
XM_024448023.1:c.*964C>A XP_024303791.1:n.*964C>A
NM_000235.4:c.*964C>A MANE Select NP_000226.2:n.*964C>A
NM_001127605.3:c.*964C>A NP_001121077.1:n.*964C>A
NM_001288979.2:c.*964C>A NP_001275908.1:n.*964C>A
Search 100 bp 5'
Search 100 bp 3'