Canonical Allele Identifier: CA325531020

Gene: ARSA

Linked Data

• dbSNP Id: rs1007197573
• gnomAD v3: 22-50624679-GTC-G
• gnomAD v4: 22-50624679-GTC-G
• MyVariant Identifiers: chr22:g.51063108_51063109del (hg19) ; chr22:g.50624680_50624681del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50624686_50624687del , CM000684.2:g.50624686_50624687del	GRCh38
NC_000022.10:g.51063114_51063115del , CM000684.1:g.51063114_51063115del	GRCh37
NC_000022.9:g.49409980_49409981del	NCBI36
NG_009260.2:g.8499_8500del

Transcript Alleles

HGVS	Amino-acid change
ENST00000216124.10:c.*464_*465del MANE Select	ENSP00000216124.5:n.*464_*465del
ENST00000608497.1:c.180+682_180+683del
NM_000487.5:c.*464_*465del	NP_000478.3:n.*464_*465del
NM_001085425.2:c.*464_*465del	NP_001078894.2:n.*464_*465del
NM_001085426.2:c.*464_*465del	NP_001078895.2:n.*464_*465del
NM_001085427.2:c.*464_*465del	NP_001078896.2:n.*464_*465del
NM_001085428.2:c.*464_*465del	NP_001078897.1:n.*464_*465del
NM_001362782.1:c.*464_*465del	NP_001349711.1:n.*464_*465del
NM_000487.6:c.*464_*465del MANE Select	NP_000478.3:n.*464_*465del
NM_001085425.3:c.*464_*465del	NP_001078894.2:n.*464_*465del
NM_001085426.3:c.*464_*465del	NP_001078895.2:n.*464_*465del
NM_001085427.3:c.*464_*465del	NP_001078896.2:n.*464_*465del
NM_001085428.3:c.*464_*465del	NP_001078897.1:n.*464_*465del
NM_001362782.2:c.*464_*465del	NP_001349711.1:n.*464_*465del