Canonical Allele Identifier: CA2610081783

Gene: LIPA

Linked Data

• gnomAD v4: 10-89245867-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89245867G>T , CM000672.2:g.89245867G>T	GRCh38
NC_000010.10:g.91005624G>T , CM000672.1:g.91005624G>T	GRCh37
NC_000010.9:g.90995604G>T	NCBI36
NG_008194.1:g.11037C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336233.10:c.112-74C>A MANE Select	ENSP00000337354.5:n.112-74C>A
ENST00000282673.5:c.112-74C>A	ENSP00000282673.4:n.112-74C>A
ENST00000336233.9:c.112-74C>A	ENSP00000337354.5:n.112-74C>A
ENST00000371837.5:c.62-17469C>A	ENSP00000360903.1:n.62-17469C>A
ENST00000428800.5:c.112-74C>A	ENSP00000388415.1:n.112-74C>A
ENST00000456827.5:c.-120+5870C>A	ENSP00000413019.2:n.-120+5870C>A
NM_000235.3:c.112-74C>A	NP_000226.2:n.112-74C>A
NM_001127605.2:c.112-74C>A	NP_001121077.1:n.112-74C>A
NM_001288979.1:c.-120+5870C>A	NP_001275908.1:n.-120+5870C>A
XM_024448023.1:c.112-74C>A	XP_024303791.1:n.112-74C>A
NM_000235.4:c.112-74C>A MANE Select	NP_000226.2:n.112-74C>A
NM_001127605.3:c.112-74C>A	NP_001121077.1:n.112-74C>A
NM_001288979.2:c.-120+5870C>A	NP_001275908.1:n.-120+5870C>A