Canonical Allele Identifier: CA325531102
Gene: ARSA HGNC NCBI
MyVariant.info:
GRCh38 chr22:g.50625018T>A
GRCh37 chr22:g.51063446T>A
gnomAD v2:
22:51063446 T / A
gnomAD v3:
22:50625018 T / A
gnomAD v4:
chr22-50625018-T-A
Joint Max Group AF 0.00237089 (AMR)
Genomes Max Group AF 0.00086592 (AMR)
Exomes Max Group AF 0.00331779 (AMR)
ClinVar RCV:
RCV001146319
ClinVar Variation:
900838
dbSNP:
977218325
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50625018T>A , CM000684.2:g.50625018T>A GRCh38
NC_000022.10:g.51063446T>A , CM000684.1:g.51063446T>A GRCh37
NC_000022.9:g.49410312T>A NCBI36
NG_009260.2:g.8162A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000216124.10:c.*127A>T MANE Select ENSP00000216124.5:n.*127A>T
ENST00000216124.9:c.*127A>T ENSP00000216124.5:n.*127A>T
ENST00000356098.9:c.*127A>T ENSP00000348406.5:n.*127A>T
ENST00000608497.1:c.180+345A>T
NM_000487.5:c.*127A>T NP_000478.3:n.*127A>T
NM_001085425.2:c.*127A>T NP_001078894.2:n.*127A>T
NM_001085426.2:c.*127A>T NP_001078895.2:n.*127A>T
NM_001085427.2:c.*127A>T NP_001078896.2:n.*127A>T
NM_001085428.2:c.*127A>T NP_001078897.1:n.*127A>T
NM_001362782.1:c.*127A>T NP_001349711.1:n.*127A>T
NM_000487.6:c.*127A>T MANE Select NP_000478.3:n.*127A>T
NM_001085425.3:c.*127A>T NP_001078894.2:n.*127A>T
NM_001085426.3:c.*127A>T NP_001078895.2:n.*127A>T
NM_001085427.3:c.*127A>T NP_001078896.2:n.*127A>T
NM_001085428.3:c.*127A>T NP_001078897.1:n.*127A>T
NM_001362782.2:c.*127A>T NP_001349711.1:n.*127A>T
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