Canonical Allele Identifier: CA325531064
Gene: ARSA HGNC NCBI

Linked Data

dbSNP Id: rs1006816186

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50624856G>C , CM000684.2:g.50624856G>C GRCh38
NC_000022.10:g.51063284G>C , CM000684.1:g.51063284G>C GRCh37
NC_000022.9:g.49410150G>C NCBI36
NG_009260.2:g.8324C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000216124.10:c.*289C>G MANE Select ENSP00000216124.5:n.*289C>G
ENST00000608497.1:c.180+507C>G
NM_000487.5:c.*289C>G NP_000478.3:n.*289C>G
NM_001085425.2:c.*289C>G NP_001078894.2:n.*289C>G
NM_001085426.2:c.*289C>G NP_001078895.2:n.*289C>G
NM_001085427.2:c.*289C>G NP_001078896.2:n.*289C>G
NM_001085428.2:c.*289C>G NP_001078897.1:n.*289C>G
NM_001362782.1:c.*289C>G NP_001349711.1:n.*289C>G
NM_000487.6:c.*289C>G MANE Select NP_000478.3:n.*289C>G
NM_001085425.3:c.*289C>G NP_001078894.2:n.*289C>G
NM_001085426.3:c.*289C>G NP_001078895.2:n.*289C>G
NM_001085427.3:c.*289C>G NP_001078896.2:n.*289C>G
NM_001085428.3:c.*289C>G NP_001078897.1:n.*289C>G
NM_001362782.2:c.*289C>G NP_001349711.1:n.*289C>G