Canonical Allele Identifier: CA412168142

Gene: ARSA

Linked Data

• ClinVar Variation Id: 2061911
• ClinVar RCV Id: RCV002953037
• MyVariant Identifiers: chr22:g.51063733G>A (hg19) ; chr22:g.50625305G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50625305G>A , CM000684.2:g.50625305G>A	GRCh38
NC_000022.10:g.51063733G>A , CM000684.1:g.51063733G>A	GRCh37
NC_000022.9:g.49410599G>A	NCBI36
NG_009260.2:g.7875C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216124.10:c.1370C>T MANE Select	ENSP00000216124.5:p.Ala457Val
ENST00000216124.9:c.1370C>T	ENSP00000216124.5:p.Ala457Val
ENST00000356098.9:c.1370C>T	ENSP00000348406.5:p.Ala457Val
ENST00000395619.3:c.1370C>T	ENSP00000378981.3:p.Ala457Val
ENST00000395621.7:c.1370C>T	ENSP00000378983.3:p.Ala457Val
ENST00000453344.6:c.1112C>T	ENSP00000412542.2:p.Ala371Val
ENST00000608497.1:c.180+58C>T
NM_000487.5:c.1370C>T	NP_000478.3:p.Ala457Val
NM_001085425.2:c.1370C>T	NP_001078894.2:p.Ala457Val
NM_001085426.2:c.1370C>T	NP_001078895.2:p.Ala457Val
NM_001085427.2:c.1370C>T	NP_001078896.2:p.Ala457Val
NM_001085428.2:c.1112C>T	NP_001078897.1:p.Ala371Val
XM_011530690.1:c.1112C>T	XP_011528992.1:p.Ala371Val
XM_011530691.1:c.*103C>T	XP_011528993.1:n.*103C>T
NM_001362782.1:c.1112C>T	NP_001349711.1:p.Ala371Val
XM_011530691.3:c.*103C>T	XP_011528993.1:n.*103C>T
XM_017028800.1:c.1484C>T	XP_016884289.1:p.Ala495Val
XM_024452241.1:c.*103C>T	XP_024308009.1:n.*103C>T
NM_000487.6:c.1370C>T MANE Select	NP_000478.3:p.Ala457Val
NM_001085425.3:c.1370C>T	NP_001078894.2:p.Ala457Val
NM_001085426.3:c.1370C>T	NP_001078895.2:p.Ala457Val
NM_001085427.3:c.1370C>T	NP_001078896.2:p.Ala457Val
NM_001085428.3:c.1112C>T	NP_001078897.1:p.Ala371Val
NM_001362782.2:c.1112C>T	NP_001349711.1:p.Ala371Val