Canonical Allele Identifier: CA377516093

Gene: LIPA

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89214906A>C , CM000672.2:g.89214906A>C	GRCh38
NC_000010.10:g.90974663A>C , CM000672.1:g.90974663A>C	GRCh37
NC_000010.9:g.90964643A>C	NCBI36
NG_008194.1:g.41998T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000235.4:c.1122T>G MANE Select	NP_000226.2:p.His374Gln
ENST00000336233.10:c.1122T>G MANE Select	ENSP00000337354.5:p.His374Gln
NM_000235.3:c.1122T>G	NP_000226.2:p.His374Gln
NM_001127605.2:c.1122T>G	NP_001121077.1:p.His374Gln
NM_001127605.3:c.1122T>G	NP_001121077.1:p.His374Gln
NM_001288979.1:c.774T>G	NP_001275908.1:p.His258Gln
NM_001288979.2:c.774T>G	NP_001275908.1:p.His258Gln
ENST00000336233.9:c.1122T>G	ENSP00000337354.5:p.His374Gln
ENST00000371837.5:c.954T>G	ENSP00000360903.1:p.His318Gln
ENST00000456827.5:c.774T>G	ENSP00000413019.2:p.His258Gln
XM_024448023.1:c.1122T>G	XP_024303791.1:p.His374Gln