Canonical Allele Identifier: CA325531013

Gene: ARSA

Linked Data

• ClinVar Variation Id: 903295
• ClinVar RCV Id: RCV001150508
• dbSNP Id: rs565093599
• gnomAD v3: 22-50624666-G-C
• gnomAD v4: 22-50624666-G-C
• MyVariant Identifiers: chr22:g.51063094G>C (hg19) ; chr22:g.50624666G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50624666G>C , CM000684.2:g.50624666G>C	GRCh38
NC_000022.10:g.51063094G>C , CM000684.1:g.51063094G>C	GRCh37
NC_000022.9:g.49409960G>C	NCBI36
NG_009260.2:g.8514C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216124.10:c.*479C>G MANE Select	ENSP00000216124.5:n.*479C>G
ENST00000608497.1:c.180+697C>G
NM_000487.5:c.*479C>G	NP_000478.3:n.*479C>G
NM_001085425.2:c.*479C>G	NP_001078894.2:n.*479C>G
NM_001085426.2:c.*479C>G	NP_001078895.2:n.*479C>G
NM_001085427.2:c.*479C>G	NP_001078896.2:n.*479C>G
NM_001085428.2:c.*479C>G	NP_001078897.1:n.*479C>G
NM_001362782.1:c.*479C>G	NP_001349711.1:n.*479C>G
NM_000487.6:c.*479C>G MANE Select	NP_000478.3:n.*479C>G
NM_001085425.3:c.*479C>G	NP_001078894.2:n.*479C>G
NM_001085426.3:c.*479C>G	NP_001078895.2:n.*479C>G
NM_001085427.3:c.*479C>G	NP_001078896.2:n.*479C>G
NM_001085428.3:c.*479C>G	NP_001078897.1:n.*479C>G
NM_001362782.2:c.*479C>G	NP_001349711.1:n.*479C>G