Canonical Allele Identifier: CA211359943

Gene: LIPA

Linked Data

• dbSNP Id: rs571012707
• gnomAD v2: 10-90973938-C-T
• gnomAD v3: 10-89214181-C-T
• gnomAD v4: 10-89214181-C-T
• MyVariant Identifiers: chr10:g.90973938C>T (hg19) ; chr10:g.89214181C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89214181C>T , CM000672.2:g.89214181C>T	GRCh38
NC_000010.10:g.90973938C>T , CM000672.1:g.90973938C>T	GRCh37
NC_000010.9:g.90963918C>T	NCBI36
NG_008194.1:g.42723G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336233.10:c.*647G>A MANE Select	ENSP00000337354.5:n.*647G>A
ENST00000336233.9:c.*647G>A	ENSP00000337354.5:n.*647G>A
ENST00000371837.5:c.*647G>A	ENSP00000360903.1:n.*647G>A
ENST00000456827.5:c.*647G>A	ENSP00000413019.2:n.*647G>A
NM_000235.3:c.*647G>A	NP_000226.2:n.*647G>A
NM_001127605.2:c.*647G>A	NP_001121077.1:n.*647G>A
NM_001288979.1:c.*647G>A	NP_001275908.1:n.*647G>A
XM_024448023.1:c.*647G>A	XP_024303791.1:n.*647G>A
NM_000235.4:c.*647G>A MANE Select	NP_000226.2:n.*647G>A
NM_001127605.3:c.*647G>A	NP_001121077.1:n.*647G>A
NM_001288979.2:c.*647G>A	NP_001275908.1:n.*647G>A