Canonical Allele Identifier: CA219048

Gene: ARSA

Linked Data

• ClinVar Variation Id: 68146
• ClinVar RCV Id: RCV000058977
• dbSNP Id: rs199476383
• MyVariant Identifiers: chr22:g.51065285A>C (hg19) ; chr22:g.50626857A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50626857A>C , CM000684.2:g.50626857A>C	GRCh38
NC_000022.10:g.51065285A>C , CM000684.1:g.51065285A>C	GRCh37
NC_000022.9:g.49412151A>C	NCBI36
NG_009260.2:g.6323T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000216124.10:c.661T>G MANE Select	ENSP00000216124.5:p.Phe221Val
ENST00000216124.9:c.661T>G	ENSP00000216124.5:p.Phe221Val
ENST00000356098.9:c.661T>G	ENSP00000348406.5:p.Phe221Val
ENST00000395619.3:c.661T>G	ENSP00000378981.3:p.Phe221Val
ENST00000395621.7:c.661T>G	ENSP00000378983.3:p.Phe221Val
ENST00000453344.6:c.403T>G	ENSP00000412542.2:p.Phe135Val
ENST00000551731.1:n.1165T>G
NM_000487.5:c.661T>G	NP_000478.3:p.Phe221Val
NM_001085425.2:c.661T>G	NP_001078894.2:p.Phe221Val
NM_001085426.2:c.661T>G	NP_001078895.2:p.Phe221Val
NM_001085427.2:c.661T>G	NP_001078896.2:p.Phe221Val
NM_001085428.2:c.403T>G	NP_001078897.1:p.Phe135Val
XM_011530690.1:c.403T>G	XP_011528992.1:p.Phe135Val
XM_011530691.1:c.661T>G	XP_011528993.1:p.Phe221Val
NM_001362782.1:c.403T>G	NP_001349711.1:p.Phe135Val
XM_011530691.3:c.661T>G	XP_011528993.1:p.Phe221Val
XM_017028800.1:c.661T>G	XP_016884289.1:p.Phe221Val
XM_024452241.1:c.661T>G	XP_024308009.1:p.Phe221Val
NM_000487.6:c.661T>G MANE Select	NP_000478.3:p.Phe221Val
NM_001085425.3:c.661T>G	NP_001078894.2:p.Phe221Val
NM_001085426.3:c.661T>G	NP_001078895.2:p.Phe221Val
NM_001085427.3:c.661T>G	NP_001078896.2:p.Phe221Val
NM_001085428.3:c.403T>G	NP_001078897.1:p.Phe135Val
NM_001362782.2:c.403T>G	NP_001349711.1:p.Phe135Val