Canonical Allele Identifier: CA754067095
Gene: ARSA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50625025A>G , CM000684.2:g.50625025A>G GRCh38
NC_000022.10:g.51063453A>G , CM000684.1:g.51063453A>G GRCh37
NC_000022.9:g.49410319A>G NCBI36
NG_009260.2:g.8155T>C

Transcript Alleles

HGVS Amino-acid change
NM_000487.5:c.*120T>C NP_000478.3:p.=
NM_001085425.2:c.*120T>C NP_001078894.2:p.=
NM_001085426.2:c.*120T>C NP_001078895.2:p.=
NM_001085427.2:c.*120T>C NP_001078896.2:p.=
NM_001085428.2:c.*120T>C NP_001078897.1:p.=
XM_011530690.1:c.*120T>C XP_011528992.1:p.=
XM_011530691.1:c.*383T>C XP_011528993.1:p.=
NM_001362782.1:c.*120T>C NP_001349711.1:p.=
XM_011530691.3:c.*383T>C XP_011528993.1:p.=
XM_017028800.1:c.*120T>C XP_016884289.1:p.=
XM_024452241.1:c.*383T>C XP_024308009.1:p.=
NM_000487.6:c.*120T>C MANE Select NP_000478.3:p.=
NM_001085425.3:c.*120T>C NP_001078894.2:p.=
NM_001085426.3:c.*120T>C NP_001078895.2:p.=
NM_001085427.3:c.*120T>C NP_001078896.2:p.=
NM_001085428.3:c.*120T>C NP_001078897.1:p.=
NM_001362782.2:c.*120T>C NP_001349711.1:p.=
ENST00000216124.9:c.*120T>C ENSP00000216124.5:p.=
ENST00000356098.9:c.*120T>C ENSP00000348406.5:p.=
ENST00000608497.1:n.180+338T>C