Canonical Allele Identifier: CA211366942

Gene: LIPA

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89223902C>G , CM000672.2:g.89223902C>G	GRCh38
NC_000010.10:g.90983659C>G , CM000672.1:g.90983659C>G	GRCh37
NC_000010.9:g.90973639C>G	NCBI36
NG_008194.1:g.33002G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000235.4:c.676-72G>C MANE Select	NP_000226.2:n.676-72G>C
ENST00000336233.10:c.676-72G>C MANE Select	ENSP00000337354.5:n.676-72G>C
NM_000235.3:c.676-72G>C	NP_000226.2:n.676-72G>C
NM_001127605.2:c.676-72G>C	NP_001121077.1:n.676-72G>C
NM_001127605.3:c.676-72G>C	NP_001121077.1:n.676-72G>C
NM_001288979.1:c.328-72G>C	NP_001275908.1:n.328-72G>C
NM_001288979.2:c.328-72G>C	NP_001275908.1:n.328-72G>C
ENST00000336233.9:c.676-72G>C	ENSP00000337354.5:n.676-72G>C
ENST00000371837.5:c.508-72G>C	ENSP00000360903.1:n.508-72G>C
ENST00000428800.5:c.676-72G>C	ENSP00000388415.1:n.676-72G>C
ENST00000456827.5:c.328-72G>C	ENSP00000413019.2:n.328-72G>C
XM_024448023.1:c.676-72G>C	XP_024303791.1:n.676-72G>C