Canonical Allele Identifier: CA211359660

Gene: LIPA

Linked Data

• dbSNP Id: rs1016499335
• gnomAD v4: 10-89213909-G-T
• MyVariant Identifiers: chr10:g.90973666G>T (hg19) ; chr10:g.89213909G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89213909G>T , CM000672.2:g.89213909G>T	GRCh38
NC_000010.10:g.90973666G>T , CM000672.1:g.90973666G>T	GRCh37
NC_000010.9:g.90963646G>T	NCBI36
NG_008194.1:g.42995C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336233.10:c.*919C>A MANE Select	ENSP00000337354.5:n.*919C>A
ENST00000336233.9:c.*919C>A	ENSP00000337354.5:n.*919C>A
ENST00000371837.5:c.*919C>A	ENSP00000360903.1:n.*919C>A
ENST00000456827.5:c.*919C>A	ENSP00000413019.2:n.*919C>A
NM_000235.3:c.*919C>A	NP_000226.2:n.*919C>A
NM_001127605.2:c.*919C>A	NP_001121077.1:n.*919C>A
NM_001288979.1:c.*919C>A	NP_001275908.1:n.*919C>A
XM_024448023.1:c.*919C>A	XP_024303791.1:n.*919C>A
NM_000235.4:c.*919C>A MANE Select	NP_000226.2:n.*919C>A
NM_001127605.3:c.*919C>A	NP_001121077.1:n.*919C>A
NM_001288979.2:c.*919C>A	NP_001275908.1:n.*919C>A