Canonical Allele Identifier: CA754066951

Gene: ARSA

Linked Data

• ClinVar Variation Id: 899694
• ClinVar RCV Id: RCV001144423
• dbSNP Id: rs1249327412
• gnomAD v3: 22-50624765-C-T
• gnomAD v4: 22-50624765-C-T
• MyVariant Identifiers: chr22:g.51063193C>T (hg19) ; chr22:g.50624765C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50624765C>T , CM000684.2:g.50624765C>T	GRCh38
NC_000022.10:g.51063193C>T , CM000684.1:g.51063193C>T	GRCh37
NC_000022.9:g.49410059C>T	NCBI36
NG_009260.2:g.8415G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216124.10:c.*380G>A MANE Select	ENSP00000216124.5:n.*380G>A
ENST00000608497.1:c.180+598G>A
NM_000487.5:c.*380G>A	NP_000478.3:n.*380G>A
NM_001085425.2:c.*380G>A	NP_001078894.2:n.*380G>A
NM_001085426.2:c.*380G>A	NP_001078895.2:n.*380G>A
NM_001085427.2:c.*380G>A	NP_001078896.2:n.*380G>A
NM_001085428.2:c.*380G>A	NP_001078897.1:n.*380G>A
NM_001362782.1:c.*380G>A	NP_001349711.1:n.*380G>A
NM_000487.6:c.*380G>A MANE Select	NP_000478.3:n.*380G>A
NM_001085425.3:c.*380G>A	NP_001078894.2:n.*380G>A
NM_001085426.3:c.*380G>A	NP_001078895.2:n.*380G>A
NM_001085427.3:c.*380G>A	NP_001078896.2:n.*380G>A
NM_001085428.3:c.*380G>A	NP_001078897.1:n.*380G>A
NM_001362782.2:c.*380G>A	NP_001349711.1:n.*380G>A