Canonical Allele Identifier: CA412168978
Gene: ARSA HGNC NCBI

Linked Data

ClinVar Variation Id: 431090
ClinVar RCV Id: RCV000496135
dbSNP Id: rs1135401757

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50625401T>C , CM000684.2:g.50625401T>C GRCh38
NC_000022.10:g.51063829T>C , CM000684.1:g.51063829T>C GRCh37
NC_000022.9:g.49410695T>C NCBI36
NG_009260.2:g.7779A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000216124.10:c.1274A>G MANE Select ENSP00000216124.5:p.His425Arg
ENST00000216124.9:c.1274A>G ENSP00000216124.5:p.His425Arg
ENST00000356098.9:c.1274A>G ENSP00000348406.5:p.His425Arg
ENST00000395619.3:c.1274A>G ENSP00000378981.3:p.His425Arg
ENST00000395621.7:c.1274A>G ENSP00000378983.3:p.His425Arg
ENST00000453344.6:c.1016A>G ENSP00000412542.2:p.His339Arg
ENST00000608497.1:c.142A>G
NM_000487.5:c.1274A>G NP_000478.3:p.His425Arg
NM_001085425.2:c.1274A>G NP_001078894.2:p.His425Arg
NM_001085426.2:c.1274A>G NP_001078895.2:p.His425Arg
NM_001085427.2:c.1274A>G NP_001078896.2:p.His425Arg
NM_001085428.2:c.1016A>G NP_001078897.1:p.His339Arg
XM_011530690.1:c.1016A>G XP_011528992.1:p.His339Arg
XM_011530691.1:c.*7A>G XP_011528993.1:n.*7A>G
NM_001362782.1:c.1016A>G NP_001349711.1:p.His339Arg
XM_011530691.3:c.*7A>G XP_011528993.1:n.*7A>G
XM_017028800.1:c.1388A>G XP_016884289.1:p.His463Arg
XM_024452241.1:c.*7A>G XP_024308009.1:n.*7A>G
NM_000487.6:c.1274A>G MANE Select NP_000478.3:p.His425Arg
NM_001085425.3:c.1274A>G NP_001078894.2:p.His425Arg
NM_001085426.3:c.1274A>G NP_001078895.2:p.His425Arg
NM_001085427.3:c.1274A>G NP_001078896.2:p.His425Arg
NM_001085428.3:c.1016A>G NP_001078897.1:p.His339Arg
NM_001362782.2:c.1016A>G NP_001349711.1:p.His339Arg