Canonical Allele Identifier: CA5593843

Gene: LIPA

Linked Data

• ClinVar Variation Id: 595978
• ClinVar RCV Id: RCV000731671 ; RCV001104686 ; RCV002536467
• dbSNP Id: rs138408240
• ExAC: 10:91007400 T / A
• gnomAD v2: 10-91007400-T-A
• gnomAD v3: 10-89247643-T-A
• gnomAD v4: 10-89247643-T-A
• MyVariant Identifiers: chr10:g.91007400T>A (hg19) ; chr10:g.89247643T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89247643T>A , CM000672.2:g.89247643T>A	GRCh38
NC_000010.10:g.91007400T>A , CM000672.1:g.91007400T>A	GRCh37
NC_000010.9:g.90997380T>A	NCBI36
NG_008194.1:g.9261A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336233.10:c.6A>T MANE Select	ENSP00000337354.5:p.Lys2Asn
ENST00000282673.5:c.6A>T	ENSP00000282673.4:p.Lys2Asn
ENST00000336233.9:c.6A>T	ENSP00000337354.5:p.Lys2Asn
ENST00000371837.5:c.62-19245A>T	ENSP00000360903.1:n.62-19245A>T
ENST00000428800.5:c.6A>T	ENSP00000388415.1:p.Lys2Asn
ENST00000456827.5:c.-120+4094A>T	ENSP00000413019.2:n.-120+4094A>T
NM_000235.3:c.6A>T	NP_000226.2:p.Lys2Asn
NM_001127605.2:c.6A>T	NP_001121077.1:p.Lys2Asn
NM_001288979.1:c.-120+4094A>T	NP_001275908.1:n.-120+4094A>T
XM_024448023.1:c.6A>T	XP_024303791.1:p.Lys2Asn
NM_000235.4:c.6A>T MANE Select	NP_000226.2:p.Lys2Asn
NM_001127605.3:c.6A>T	NP_001121077.1:p.Lys2Asn
NM_001288979.2:c.-120+4094A>T	NP_001275908.1:n.-120+4094A>T