Canonical Allele Identifier: CA115962
Gene: ARSA HGNC NCBI

Linked Data

ClinVar Variation Id: 3057
dbSNP Id: rs74315457

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50626976A>C , CM000684.2:g.50626976A>C GRCh38
NC_000022.10:g.51065404A>C , CM000684.1:g.51065404A>C GRCh37
NC_000022.9:g.49412270A>C NCBI36
NG_009260.2:g.6204T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000216124.9:c.542T>G ENSP00000216124.5:p.Ile181Ser
ENST00000356098.9:c.542T>G ENSP00000348406.5:p.Ile181Ser
ENST00000395619.3:c.542T>G ENSP00000378981.3:p.Ile181Ser
ENST00000395621.7:c.542T>G ENSP00000378983.3:p.Ile181Ser
ENST00000453344.6:c.284T>G ENSP00000412542.2:p.Ile95Ser
NM_000487.5:c.542T>G NP_000478.3:p.Ile181Ser
NM_001085425.2:c.542T>G NP_001078894.2:p.Ile181Ser
NM_001085426.2:c.542T>G NP_001078895.2:p.Ile181Ser
NM_001085427.2:c.542T>G NP_001078896.2:p.Ile181Ser
NM_001085428.2:c.284T>G NP_001078897.1:p.Ile95Ser
XM_011530690.1:c.284T>G XP_011528992.1:p.Ile95Ser
XM_011530691.1:c.542T>G XP_011528993.1:p.Ile181Ser
NM_001362782.1:c.284T>G NP_001349711.1:p.Ile95Ser
XM_011530691.3:c.542T>G XP_011528993.1:p.Ile181Ser
XM_017028800.1:c.542T>G XP_016884289.1:p.Ile181Ser
XM_024452241.1:c.542T>G XP_024308009.1:p.Ile181Ser
NM_000487.6:c.542T>G MANE Select NP_000478.3:p.Ile181Ser
NM_001085425.3:c.542T>G NP_001078894.2:p.Ile181Ser
NM_001085426.3:c.542T>G NP_001078895.2:p.Ile181Ser
NM_001085427.3:c.542T>G NP_001078896.2:p.Ile181Ser
NM_001085428.3:c.284T>G NP_001078897.1:p.Ile95Ser
NM_001362782.2:c.284T>G NP_001349711.1:p.Ile95Ser