Canonical Allele Identifier: CA2410957629

Gene: ARSA

Linked Data

• dbSNP Id: rs2082622028

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50623864_50623865dup , CM000684.2:g.50623864_50623865dup	GRCh38
NC_000022.10:g.51062292_51062293dup , CM000684.1:g.51062292_51062293dup	GRCh37
NC_000022.9:g.49409158_49409159dup	NCBI36
NG_009260.2:g.9316_9317dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216124.10:c.*1281_*1282dup MANE Select	ENSP00000216124.5:n.*1281_*1282dup
ENST00000608497.1:c.212_213dup
NM_000487.5:c.*1281_*1282dup	NP_000478.3:n.*1281_*1282dup
NM_001085425.2:c.*1281_*1282dup	NP_001078894.2:n.*1281_*1282dup
NM_001085426.2:c.*1281_*1282dup	NP_001078895.2:n.*1281_*1282dup
NM_001085427.2:c.*1281_*1282dup	NP_001078896.2:n.*1281_*1282dup
NM_001085428.2:c.*1281_*1282dup	NP_001078897.1:n.*1281_*1282dup
NM_001362782.1:c.*1281_*1282dup	NP_001349711.1:n.*1281_*1282dup
NM_000487.6:c.*1281_*1282dup MANE Select	NP_000478.3:n.*1281_*1282dup
NM_001085425.3:c.*1281_*1282dup	NP_001078894.2:n.*1281_*1282dup
NM_001085426.3:c.*1281_*1282dup	NP_001078895.2:n.*1281_*1282dup
NM_001085427.3:c.*1281_*1282dup	NP_001078896.2:n.*1281_*1282dup
NM_001085428.3:c.*1281_*1282dup	NP_001078897.1:n.*1281_*1282dup
NM_001362782.2:c.*1281_*1282dup	NP_001349711.1:n.*1281_*1282dup