Canonical Allele Identifier: CA10651532
Gene: ARSA HGNC NCBI

Linked Data

ClinVar Variation Id: 342189
ClinVar RCV Id: RCV000326377
dbSNP Id: rs886057642

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50623122C>G , CM000684.2:g.50623122C>G GRCh38
NC_000022.10:g.51061550C>G , CM000684.1:g.51061550C>G GRCh37
NC_000022.9:g.49408416C>G NCBI36
NG_009260.2:g.10058G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000216124.10:c.*2023G>C MANE Select ENSP00000216124.5:n.*2023G>C
ENST00000608497.1:c.303-95G>C
ENST00000610191.1:n.205G>C
NM_000487.5:c.*2023G>C NP_000478.3:n.*2023G>C
NM_001085425.2:c.*2023G>C NP_001078894.2:n.*2023G>C
NM_001085426.2:c.*2023G>C NP_001078895.2:n.*2023G>C
NM_001085427.2:c.*2023G>C NP_001078896.2:n.*2023G>C
NM_001085428.2:c.*2023G>C NP_001078897.1:n.*2023G>C
NM_001362782.1:c.*2023G>C NP_001349711.1:n.*2023G>C
NM_000487.6:c.*2023G>C MANE Select NP_000478.3:n.*2023G>C
NM_001085425.3:c.*2023G>C NP_001078894.2:n.*2023G>C
NM_001085426.3:c.*2023G>C NP_001078895.2:n.*2023G>C
NM_001085427.3:c.*2023G>C NP_001078896.2:n.*2023G>C
NM_001085428.3:c.*2023G>C NP_001078897.1:n.*2023G>C
NM_001362782.2:c.*2023G>C NP_001349711.1:n.*2023G>C