Canonical Allele Identifier: CA211366048

Gene: LIPA

Linked Data

• dbSNP Id: rs892923673
• gnomAD v2: 10-90982171-T-C
• gnomAD v3: 10-89222414-T-C
• gnomAD v4: 10-89222414-T-C
• MyVariant Identifiers: chr10:g.90982171T>C (hg19) ; chr10:g.89222414T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89222414T>C , CM000672.2:g.89222414T>C	GRCh38
NC_000010.10:g.90982171T>C , CM000672.1:g.90982171T>C	GRCh37
NC_000010.9:g.90972151T>C	NCBI36
NG_008194.1:g.34490A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336233.10:c.894+97A>G MANE Select	ENSP00000337354.5:n.894+97A>G
ENST00000336233.9:c.894+97A>G	ENSP00000337354.5:n.894+97A>G
ENST00000371837.5:c.726+97A>G	ENSP00000360903.1:n.726+97A>G
ENST00000456827.5:c.546+97A>G	ENSP00000413019.2:n.546+97A>G
NM_000235.3:c.894+97A>G	NP_000226.2:n.894+97A>G
NM_001127605.2:c.894+97A>G	NP_001121077.1:n.894+97A>G
NM_001288979.1:c.546+97A>G	NP_001275908.1:n.546+97A>G
XM_024448023.1:c.894+97A>G	XP_024303791.1:n.894+97A>G
NM_000235.4:c.894+97A>G MANE Select	NP_000226.2:n.894+97A>G
NM_001127605.3:c.894+97A>G	NP_001121077.1:n.894+97A>G
NM_001288979.2:c.546+97A>G	NP_001275908.1:n.546+97A>G