Canonical Allele Identifier: CA115987
Gene: ARSA HGNC NCBI

Linked Data

ClinVar Variation Id: 3078
ClinVar RCV Id: RCV000003224 RCV000492011
dbSNP Id: rs74315474
MyVariant Identifiers: chr22:g.51064671G>T (hg19) chr22:g.50626243G>T (hg38)
PubMed: PMID:7906588
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50626243G>T , CM000684.2:g.50626243G>T GRCh38
NC_000022.10:g.51064671G>T , CM000684.1:g.51064671G>T GRCh37
NC_000022.9:g.49411537G>T NCBI36
NG_009260.2:g.6937C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000216124.10:c.890C>A MANE Select ENSP00000216124.5:p.Ser297Tyr
ENST00000216124.9:c.890C>A ENSP00000216124.5:p.Ser297Tyr
ENST00000356098.9:c.890C>A ENSP00000348406.5:p.Ser297Tyr
ENST00000395619.3:c.890C>A ENSP00000378981.3:p.Ser297Tyr
ENST00000395621.7:c.890C>A ENSP00000378983.3:p.Ser297Tyr
ENST00000453344.6:c.632C>A ENSP00000412542.2:p.Ser211Tyr
NM_000487.5:c.890C>A NP_000478.3:p.Ser297Tyr
NM_001085425.2:c.890C>A NP_001078894.2:p.Ser297Tyr
NM_001085426.2:c.890C>A NP_001078895.2:p.Ser297Tyr
NM_001085427.2:c.890C>A NP_001078896.2:p.Ser297Tyr
NM_001085428.2:c.632C>A NP_001078897.1:p.Ser211Tyr
XM_011530690.1:c.632C>A XP_011528992.1:p.Ser211Tyr
XM_011530691.1:c.890C>A XP_011528993.1:p.Ser297Tyr
NM_001362782.1:c.632C>A NP_001349711.1:p.Ser211Tyr
XM_011530691.3:c.890C>A XP_011528993.1:p.Ser297Tyr
XM_017028800.1:c.890C>A XP_016884289.1:p.Ser297Tyr
XM_024452241.1:c.890C>A XP_024308009.1:p.Ser297Tyr
NM_000487.6:c.890C>A MANE Select NP_000478.3:p.Ser297Tyr
NM_001085425.3:c.890C>A NP_001078894.2:p.Ser297Tyr
NM_001085426.3:c.890C>A NP_001078895.2:p.Ser297Tyr
NM_001085427.3:c.890C>A NP_001078896.2:p.Ser297Tyr
NM_001085428.3:c.632C>A NP_001078897.1:p.Ser211Tyr
NM_001362782.2:c.632C>A NP_001349711.1:p.Ser211Tyr
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