Canonical Allele Identifier: CA115993
Gene: ARSA HGNC NCBI

Linked Data

ClinVar Variation Id: 3082
dbSNP Id: rs74315477

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50625674C>T , CM000684.2:g.50625674C>T GRCh38
NC_000022.10:g.51064102C>T , CM000684.1:g.51064102C>T GRCh37
NC_000022.9:g.49410968C>T NCBI36
NG_009260.2:g.7506G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000216124.10:c.1115G>A MANE Select ENSP00000216124.5:p.Arg372Gln
ENST00000216124.9:c.1115G>A ENSP00000216124.5:p.Arg372Gln
ENST00000356098.9:c.1115G>A ENSP00000348406.5:p.Arg372Gln
ENST00000395619.3:c.1115G>A ENSP00000378981.3:p.Arg372Gln
ENST00000395621.7:c.1115G>A ENSP00000378983.3:p.Arg372Gln
ENST00000453344.6:c.857G>A ENSP00000412542.2:p.Arg286Gln
NM_000487.5:c.1115G>A NP_000478.3:p.Arg372Gln
NM_001085425.2:c.1115G>A NP_001078894.2:p.Arg372Gln
NM_001085426.2:c.1115G>A NP_001078895.2:p.Arg372Gln
NM_001085427.2:c.1115G>A NP_001078896.2:p.Arg372Gln
NM_001085428.2:c.857G>A NP_001078897.1:p.Arg286Gln
XM_011530690.1:c.857G>A XP_011528992.1:p.Arg286Gln
XM_011530691.1:c.1108-210G>A XP_011528993.1:p.=
NM_001362782.1:c.857G>A NP_001349711.1:p.Arg286Gln
XM_011530691.3:c.1108-210G>A XP_011528993.1:p.=
XM_017028800.1:c.1115G>A XP_016884289.1:p.Arg372Gln
XM_024452241.1:c.1108-210G>A XP_024308009.1:p.=
NM_000487.6:c.1115G>A MANE Select NP_000478.3:p.Arg372Gln
NM_001085425.3:c.1115G>A NP_001078894.2:p.Arg372Gln
NM_001085426.3:c.1115G>A NP_001078895.2:p.Arg372Gln
NM_001085427.3:c.1115G>A NP_001078896.2:p.Arg372Gln
NM_001085428.3:c.857G>A NP_001078897.1:p.Arg286Gln
NM_001362782.2:c.857G>A NP_001349711.1:p.Arg286Gln