Canonical Allele Identifier: CA146668
Gene: ARSA HGNC NCBI

Linked Data

ClinVar Variation Id: 21184
dbSNP Id: rs743616

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50625611G>C , CM000684.2:g.50625611G>C GRCh38
NC_000022.10:g.51064039G>C , CM000684.1:g.51064039G>C GRCh37
NC_000022.9:g.49410905G>C NCBI36
NG_009260.2:g.7569C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000216124.10:c.1178C>G MANE Select ENSP00000216124.5:p.Thr393Ser
ENST00000216124.9:c.1178C>G ENSP00000216124.5:p.Thr393Ser
ENST00000356098.9:c.1178C>G ENSP00000348406.5:p.Thr393Ser
ENST00000395619.3:c.1178C>G ENSP00000378981.3:p.Thr393Ser
ENST00000395621.7:c.1178C>G ENSP00000378983.3:p.Thr393Ser
ENST00000453344.6:c.920C>G ENSP00000412542.2:p.Thr307Ser
ENST00000608497.1:c.46C>G
NM_000487.5:c.1178C>G NP_000478.3:p.Thr393Ser
NM_001085425.2:c.1178C>G NP_001078894.2:p.Thr393Ser
NM_001085426.2:c.1178C>G NP_001078895.2:p.Thr393Ser
NM_001085427.2:c.1178C>G NP_001078896.2:p.Thr393Ser
NM_001085428.2:c.920C>G NP_001078897.1:p.Thr307Ser
XM_011530690.1:c.920C>G XP_011528992.1:p.Thr307Ser
XM_011530691.1:c.1108-147C>G XP_011528993.1:n.1108-147C>G
NM_001362782.1:c.920C>G NP_001349711.1:p.Thr307Ser
XM_011530691.3:c.1108-147C>G XP_011528993.1:n.1108-147C>G
XM_017028800.1:c.1178C>G XP_016884289.1:p.Thr393Ser
XM_024452241.1:c.1108-147C>G XP_024308009.1:n.1108-147C>G
NM_000487.6:c.1178C>G MANE Select NP_000478.3:p.Thr393Ser
NM_001085425.3:c.1178C>G NP_001078894.2:p.Thr393Ser
NM_001085426.3:c.1178C>G NP_001078895.2:p.Thr393Ser
NM_001085427.3:c.1178C>G NP_001078896.2:p.Thr393Ser
NM_001085428.3:c.920C>G NP_001078897.1:p.Thr307Ser
NM_001362782.2:c.920C>G NP_001349711.1:p.Thr307Ser