Canonical Allele Identifier: CA377518616

Gene: LIPA

Linked Data

• MyVariant Identifiers: chr10:g.91007378C>A (hg19) ; chr10:g.89247621C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89247621C>A , CM000672.2:g.89247621C>A	GRCh38
NC_000010.10:g.91007378C>A , CM000672.1:g.91007378C>A	GRCh37
NC_000010.9:g.90997358C>A	NCBI36
NG_008194.1:g.9283G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000336233.10:c.28G>T MANE Select	ENSP00000337354.5:p.Val10Phe
ENST00000282673.5:c.28G>T	ENSP00000282673.4:p.Val10Phe
ENST00000336233.9:c.28G>T	ENSP00000337354.5:p.Val10Phe
ENST00000371837.5:c.62-19223G>T	ENSP00000360903.1:n.62-19223G>T
ENST00000428800.5:c.28G>T	ENSP00000388415.1:p.Val10Phe
ENST00000456827.5:c.-120+4116G>T	ENSP00000413019.2:n.-120+4116G>T
NM_000235.3:c.28G>T	NP_000226.2:p.Val10Phe
NM_001127605.2:c.28G>T	NP_001121077.1:p.Val10Phe
NM_001288979.1:c.-120+4116G>T	NP_001275908.1:n.-120+4116G>T
XM_024448023.1:c.28G>T	XP_024303791.1:p.Val10Phe
NM_000235.4:c.28G>T MANE Select	NP_000226.2:p.Val10Phe
NM_001127605.3:c.28G>T	NP_001121077.1:p.Val10Phe
NM_001288979.2:c.-120+4116G>T	NP_001275908.1:n.-120+4116G>T