Canonical Allele Identifier: CA2410958063
Gene: ARSA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50624581T= , CM000684.2:g.50624581T= GRCh38
NC_000022.10:g.51063009T= , CM000684.1:g.51063009T= GRCh37
NC_000022.9:g.49409875T= NCBI36
NG_009260.2:g.8599A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000216124.10:c.*564A= MANE Select ENSP00000216124.5:n.*564A=
ENST00000608497.1:c.181-686A=
NM_000487.5:c.*564A= NP_000478.3:n.*564A=
NM_001085425.2:c.*564A= NP_001078894.2:n.*564A=
NM_001085426.2:c.*564A= NP_001078895.2:n.*564A=
NM_001085427.2:c.*564A= NP_001078896.2:n.*564A=
NM_001085428.2:c.*564A= NP_001078897.1:n.*564A=
NM_001362782.1:c.*564A= NP_001349711.1:n.*564A=
NM_000487.6:c.*564A= MANE Select NP_000478.3:n.*564A=
NM_001085425.3:c.*564A= NP_001078894.2:n.*564A=
NM_001085426.3:c.*564A= NP_001078895.2:n.*564A=
NM_001085427.3:c.*564A= NP_001078896.2:n.*564A=
NM_001085428.3:c.*564A= NP_001078897.1:n.*564A=
NM_001362782.2:c.*564A= NP_001349711.1:n.*564A=