Canonical Allele Identifier: CA211369827

Gene: LIPA

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89228267T>C , CM000672.2:g.89228267T>C	GRCh38
NC_000010.10:g.90988024T>C , CM000672.1:g.90988024T>C	GRCh37
NC_000010.9:g.90978004T>C	NCBI36
NG_008194.1:g.28637A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000235.4:c.361A>G MANE Select	NP_000226.2:p.Arg121Gly
ENST00000336233.10:c.361A>G MANE Select	ENSP00000337354.5:p.Arg121Gly
NM_000235.3:c.361A>G	NP_000226.2:p.Arg121Gly
NM_001127605.2:c.361A>G	NP_001121077.1:p.Arg121Gly
NM_001127605.3:c.361A>G	NP_001121077.1:p.Arg121Gly
NM_001288979.1:c.13A>G	NP_001275908.1:p.Arg5Gly
NM_001288979.2:c.13A>G	NP_001275908.1:p.Arg5Gly
ENST00000282673.5:c.361A>G	ENSP00000282673.4:p.Arg121Gly
ENST00000336233.9:c.361A>G	ENSP00000337354.5:p.Arg121Gly
ENST00000371837.5:c.193A>G	ENSP00000360903.1:p.Arg65Gly
ENST00000428800.5:c.361A>G	ENSP00000388415.1:p.Arg121Gly
ENST00000456827.5:c.13A>G	ENSP00000413019.2:p.Arg5Gly
XM_024448023.1:c.361A>G	XP_024303791.1:p.Arg121Gly