Canonical Allele Identifier: CA116009
Gene: ARSA HGNC NCBI

Linked Data

ClinVar Variation Id: 3092
ClinVar RCV Id: RCV000003238
dbSNP Id: rs28940895

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50625446G>A , CM000684.2:g.50625446G>A GRCh38
NC_000022.10:g.51063874G>A , CM000684.1:g.51063874G>A GRCh37
NC_000022.9:g.49410740G>A NCBI36
NG_009260.2:g.7734C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000216124.10:c.1229C>T MANE Select ENSP00000216124.5:p.Thr410Ile
ENST00000216124.9:c.1229C>T ENSP00000216124.5:p.Thr410Ile
ENST00000356098.9:c.1229C>T ENSP00000348406.5:p.Thr410Ile
ENST00000395619.3:c.1229C>T ENSP00000378981.3:p.Thr410Ile
ENST00000395621.7:c.1229C>T ENSP00000378983.3:p.Thr410Ile
ENST00000453344.6:c.971C>T ENSP00000412542.2:p.Thr324Ile
ENST00000608497.1:n.97C>T
NM_000487.5:c.1229C>T NP_000478.3:p.Thr410Ile
NM_001085425.2:c.1229C>T NP_001078894.2:p.Thr410Ile
NM_001085426.2:c.1229C>T NP_001078895.2:p.Thr410Ile
NM_001085427.2:c.1229C>T NP_001078896.2:p.Thr410Ile
NM_001085428.2:c.971C>T NP_001078897.1:p.Thr324Ile
XM_011530690.1:c.971C>T XP_011528992.1:p.Thr324Ile
XM_011530691.1:c.1126C>T XP_011528993.1:p.Pro376Ser
NM_001362782.1:c.971C>T NP_001349711.1:p.Thr324Ile
XM_011530691.3:c.1126C>T XP_011528993.1:p.Pro376Ser
XM_017028800.1:c.1343C>T XP_016884289.1:p.Thr448Ile
XM_024452241.1:c.1126C>T XP_024308009.1:p.Pro376Ser
NM_000487.6:c.1229C>T MANE Select NP_000478.3:p.Thr410Ile
NM_001085425.3:c.1229C>T NP_001078894.2:p.Thr410Ile
NM_001085426.3:c.1229C>T NP_001078895.2:p.Thr410Ile
NM_001085427.3:c.1229C>T NP_001078896.2:p.Thr410Ile
NM_001085428.3:c.971C>T NP_001078897.1:p.Thr324Ile
NM_001362782.2:c.971C>T NP_001349711.1:p.Thr324Ile