Canonical Allele Identifier: CA10645794
Gene: ARSA HGNC NCBI

Linked Data

ClinVar Variation Id: 342231
ClinVar RCV Id: RCV000272762

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50625015G>T , CM000684.2:g.50625015G>T GRCh38
NC_000022.10:g.51063443G>T , CM000684.1:g.51063443G>T GRCh37
NC_000022.9:g.49410309G>T NCBI36
NG_009260.2:g.8165C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000216124.10:c.*130C>A MANE Select ENSP00000216124.5:p.=
NM_000487.5:c.*130C>A NP_000478.3:p.=
NM_001085425.2:c.*130C>A NP_001078894.2:p.=
NM_001085426.2:c.*130C>A NP_001078895.2:p.=
NM_001085427.2:c.*130C>A NP_001078896.2:p.=
NM_001085428.2:c.*130C>A NP_001078897.1:p.=
NM_001362782.1:c.*130C>A NP_001349711.1:p.=
NM_000487.6:c.*130C>A MANE Select NP_000478.3:p.=
NM_001085425.3:c.*130C>A NP_001078894.2:p.=
NM_001085426.3:c.*130C>A NP_001078895.2:p.=
NM_001085427.3:c.*130C>A NP_001078896.2:p.=
NM_001085428.3:c.*130C>A NP_001078897.1:p.=
NM_001362782.2:c.*130C>A NP_001349711.1:p.=