Canonical Allele Identifier: CA754067066
Gene: ARSA HGNC NCBI

Linked Data

dbSNP Id: rs1349519442

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50625004C>A , CM000684.2:g.50625004C>A GRCh38
NC_000022.10:g.51063432C>A , CM000684.1:g.51063432C>A GRCh37
NC_000022.9:g.49410298C>A NCBI36
NG_009260.2:g.8176G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000216124.10:c.*141G>T MANE Select ENSP00000216124.5:n.*141G>T
ENST00000608497.1:c.180+359G>T
NM_000487.5:c.*141G>T NP_000478.3:n.*141G>T
NM_001085425.2:c.*141G>T NP_001078894.2:n.*141G>T
NM_001085426.2:c.*141G>T NP_001078895.2:n.*141G>T
NM_001085427.2:c.*141G>T NP_001078896.2:n.*141G>T
NM_001085428.2:c.*141G>T NP_001078897.1:n.*141G>T
NM_001362782.1:c.*141G>T NP_001349711.1:n.*141G>T
NM_000487.6:c.*141G>T MANE Select NP_000478.3:n.*141G>T
NM_001085425.3:c.*141G>T NP_001078894.2:n.*141G>T
NM_001085426.3:c.*141G>T NP_001078895.2:n.*141G>T
NM_001085427.3:c.*141G>T NP_001078896.2:n.*141G>T
NM_001085428.3:c.*141G>T NP_001078897.1:n.*141G>T
NM_001362782.2:c.*141G>T NP_001349711.1:n.*141G>T