Canonical Allele Identifier: CA10654215

Gene: ARSA

Linked Data

• ClinVar Variation Id: 342196
• ClinVar RCV Id: RCV000407079
• dbSNP Id: rs886057647
• MyVariant Identifiers: chr22:g.51061997T>G (hg19) ; chr22:g.50623569T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50623569T>G , CM000684.2:g.50623569T>G	GRCh38
NC_000022.10:g.51061997T>G , CM000684.1:g.51061997T>G	GRCh37
NC_000022.9:g.49408863T>G	NCBI36
NG_009260.2:g.9611A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216124.10:c.*1576A>C MANE Select	ENSP00000216124.5:n.*1576A>C
ENST00000608497.1:c.302+205A>C
NM_000487.5:c.*1576A>C	NP_000478.3:n.*1576A>C
NM_001085425.2:c.*1576A>C	NP_001078894.2:n.*1576A>C
NM_001085426.2:c.*1576A>C	NP_001078895.2:n.*1576A>C
NM_001085427.2:c.*1576A>C	NP_001078896.2:n.*1576A>C
NM_001085428.2:c.*1576A>C	NP_001078897.1:n.*1576A>C
NM_001362782.1:c.*1576A>C	NP_001349711.1:n.*1576A>C
NM_000487.6:c.*1576A>C MANE Select	NP_000478.3:n.*1576A>C
NM_001085425.3:c.*1576A>C	NP_001078894.2:n.*1576A>C
NM_001085426.3:c.*1576A>C	NP_001078895.2:n.*1576A>C
NM_001085427.3:c.*1576A>C	NP_001078896.2:n.*1576A>C
NM_001085428.3:c.*1576A>C	NP_001078897.1:n.*1576A>C
NM_001362782.2:c.*1576A>C	NP_001349711.1:n.*1576A>C