Canonical Allele Identifier: CA325531097
Gene: ARSA HGNC NCBI

Linked Data

dbSNP Id: rs1021498685

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50624992A>G , CM000684.2:g.50624992A>G GRCh38
NC_000022.10:g.51063420A>G , CM000684.1:g.51063420A>G GRCh37
NC_000022.9:g.49410286A>G NCBI36
NG_009260.2:g.8188T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000216124.10:c.*153T>C MANE Select ENSP00000216124.5:p.=
NM_000487.5:c.*153T>C NP_000478.3:p.=
NM_001085425.2:c.*153T>C NP_001078894.2:p.=
NM_001085426.2:c.*153T>C NP_001078895.2:p.=
NM_001085427.2:c.*153T>C NP_001078896.2:p.=
NM_001085428.2:c.*153T>C NP_001078897.1:p.=
NM_001362782.1:c.*153T>C NP_001349711.1:p.=
NM_000487.6:c.*153T>C MANE Select NP_000478.3:p.=
NM_001085425.3:c.*153T>C NP_001078894.2:p.=
NM_001085426.3:c.*153T>C NP_001078895.2:p.=
NM_001085427.3:c.*153T>C NP_001078896.2:p.=
NM_001085428.3:c.*153T>C NP_001078897.1:p.=
NM_001362782.2:c.*153T>C NP_001349711.1:p.=