Canonical Allele Identifier: CA13343163

Gene: LIPA

Linked Data

• dbSNP Id: rs1412444
• gnomAD v2: 10-91002927-C-T
• gnomAD v3: 10-89243170-C-T
• gnomAD v4: 10-89243170-C-T
• MyVariant Identifiers: chr10:g.91002927C>T (hg19) ; chr10:g.89243170C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89243170C>T , CM000672.2:g.89243170C>T	GRCh38
NC_000010.10:g.91002927C>T , CM000672.1:g.91002927C>T	GRCh37
NC_000010.9:g.90992907C>T	NCBI36
NG_008194.1:g.13734G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000336233.10:c.229+2506G>A MANE Select	ENSP00000337354.5:n.229+2506G>A
ENST00000282673.5:c.229+2506G>A	ENSP00000282673.4:n.229+2506G>A
ENST00000336233.9:c.229+2506G>A	ENSP00000337354.5:n.229+2506G>A
ENST00000371837.5:c.62-14772G>A	ENSP00000360903.1:n.62-14772G>A
ENST00000428800.5:c.229+2506G>A	ENSP00000388415.1:n.229+2506G>A
ENST00000456827.5:c.-120+8567G>A	ENSP00000413019.2:n.-120+8567G>A
NM_000235.3:c.229+2506G>A	NP_000226.2:n.229+2506G>A
NM_001127605.2:c.229+2506G>A	NP_001121077.1:n.229+2506G>A
NM_001288979.1:c.-120+8567G>A	NP_001275908.1:n.-120+8567G>A
XM_024448023.1:c.229+2506G>A	XP_024303791.1:n.229+2506G>A
NM_000235.4:c.229+2506G>A MANE Select	NP_000226.2:n.229+2506G>A
NM_001127605.3:c.229+2506G>A	NP_001121077.1:n.229+2506G>A
NM_001288979.2:c.-120+8567G>A	NP_001275908.1:n.-120+8567G>A