Canonical Allele Identifier: CA10654223
Gene: ARSA HGNC NCBI

Linked Data

ClinVar Variation Id: 342230
ClinVar RCV Id: RCV000376714
dbSNP Id: rs537362532

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50624954G>C , CM000684.2:g.50624954G>C GRCh38
NC_000022.10:g.51063382G>C , CM000684.1:g.51063382G>C GRCh37
NC_000022.9:g.49410248G>C NCBI36
NG_009260.2:g.8226C>G

Transcript Alleles

HGVS Amino-acid change
NM_000487.5:c.*191C>G NP_000478.3:p.=
NM_001085425.2:c.*191C>G NP_001078894.2:p.=
NM_001085426.2:c.*191C>G NP_001078895.2:p.=
NM_001085427.2:c.*191C>G NP_001078896.2:p.=
NM_001085428.2:c.*191C>G NP_001078897.1:p.=
NM_001362782.1:c.*191C>G NP_001349711.1:p.=
NM_000487.6:c.*191C>G MANE Select NP_000478.3:p.=
NM_001085425.3:c.*191C>G NP_001078894.2:p.=
NM_001085426.3:c.*191C>G NP_001078895.2:p.=
NM_001085427.3:c.*191C>G NP_001078896.2:p.=
NM_001085428.3:c.*191C>G NP_001078897.1:p.=
NM_001362782.2:c.*191C>G NP_001349711.1:p.=
ENST00000608497.1:n.180+409C>G