Canonical Allele Identifier: CA377518563

Gene: LIPA

Linked Data

• MyVariant Identifiers: chr10:g.91007352A>C (hg19) ; chr10:g.89247595A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89247595A>C , CM000672.2:g.89247595A>C	GRCh38
NC_000010.10:g.91007352A>C , CM000672.1:g.91007352A>C	GRCh37
NC_000010.9:g.90997332A>C	NCBI36
NG_008194.1:g.9309T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336233.10:c.54T>G MANE Select	ENSP00000337354.5:p.His18Gln
ENST00000282673.5:c.54T>G	ENSP00000282673.4:p.His18Gln
ENST00000336233.9:c.54T>G	ENSP00000337354.5:p.His18Gln
ENST00000371837.5:c.62-19197T>G	ENSP00000360903.1:n.62-19197T>G
ENST00000428800.5:c.54T>G	ENSP00000388415.1:p.His18Gln
ENST00000456827.5:c.-120+4142T>G	ENSP00000413019.2:n.-120+4142T>G
NM_000235.3:c.54T>G	NP_000226.2:p.His18Gln
NM_001127605.2:c.54T>G	NP_001121077.1:p.His18Gln
NM_001288979.1:c.-120+4142T>G	NP_001275908.1:n.-120+4142T>G
XM_024448023.1:c.54T>G	XP_024303791.1:p.His18Gln
NM_000235.4:c.54T>G MANE Select	NP_000226.2:p.His18Gln
NM_001127605.3:c.54T>G	NP_001121077.1:p.His18Gln
NM_001288979.2:c.-120+4142T>G	NP_001275908.1:n.-120+4142T>G