Canonical Allele Identifier: CA1026680005
Gene: ARSA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50624966_50624969dup , CM000684.2:g.50624966_50624969dup GRCh38
NC_000022.10:g.51063394_51063397dup , CM000684.1:g.51063394_51063397dup GRCh37
NC_000022.9:g.49410260_49410263dup NCBI36
NG_009260.2:g.8212_8215dup

Transcript Alleles

HGVS Amino-acid change
ENST00000216124.10:c.*177_*180dup MANE Select ENSP00000216124.5:p.=
ENST00000608497.1:n.180+395_180+398dup
NM_000487.5:c.*177_*180dup NP_000478.3:p.=
NM_001085425.2:c.*177_*180dup NP_001078894.2:p.=
NM_001085426.2:c.*177_*180dup NP_001078895.2:p.=
NM_001085427.2:c.*177_*180dup NP_001078896.2:p.=
NM_001085428.2:c.*177_*180dup NP_001078897.1:p.=
NM_001362782.1:c.*177_*180dup NP_001349711.1:p.=
NM_000487.6:c.*177_*180dup MANE Select NP_000478.3:p.=
NM_001085425.3:c.*177_*180dup NP_001078894.2:p.=
NM_001085426.3:c.*177_*180dup NP_001078895.2:p.=
NM_001085427.3:c.*177_*180dup NP_001078896.2:p.=
NM_001085428.3:c.*177_*180dup NP_001078897.1:p.=
NM_001362782.2:c.*177_*180dup NP_001349711.1:p.=