Canonical Allele Identifier: CA10653690
Gene: ARSA HGNC NCBI

Linked Data

ClinVar Variation Id: 342211
ClinVar RCV Id: RCV000287418
dbSNP Id: rs114833506

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50624069T>A , CM000684.2:g.50624069T>A GRCh38
NC_000022.10:g.51062497T>A , CM000684.1:g.51062497T>A GRCh37
NC_000022.9:g.49409363T>A NCBI36
NG_009260.2:g.9111A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000216124.10:c.*1076A>T MANE Select ENSP00000216124.5:n.*1076A>T
ENST00000608497.1:c.181-174A>T
NM_000487.5:c.*1076A>T NP_000478.3:n.*1076A>T
NM_001085425.2:c.*1076A>T NP_001078894.2:n.*1076A>T
NM_001085426.2:c.*1076A>T NP_001078895.2:n.*1076A>T
NM_001085427.2:c.*1076A>T NP_001078896.2:n.*1076A>T
NM_001085428.2:c.*1076A>T NP_001078897.1:n.*1076A>T
NM_001362782.1:c.*1076A>T NP_001349711.1:n.*1076A>T
NM_000487.6:c.*1076A>T MANE Select NP_000478.3:n.*1076A>T
NM_001085425.3:c.*1076A>T NP_001078894.2:n.*1076A>T
NM_001085426.3:c.*1076A>T NP_001078895.2:n.*1076A>T
NM_001085427.3:c.*1076A>T NP_001078896.2:n.*1076A>T
NM_001085428.3:c.*1076A>T NP_001078897.1:n.*1076A>T
NM_001362782.2:c.*1076A>T NP_001349711.1:n.*1076A>T