Canonical Allele Identifier: CA325530259

Gene: ARSA

Linked Data

• dbSNP Id: rs908173751
• gnomAD v3: 22-50622979-T-C
• gnomAD v4: 22-50622979-T-C
• MyVariant Identifiers: chr22:g.51061407T>C (hg19) ; chr22:g.50622979T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50622979T>C , CM000684.2:g.50622979T>C	GRCh38
NC_000022.10:g.51061407T>C , CM000684.1:g.51061407T>C	GRCh37
NC_000022.9:g.49408273T>C	NCBI36
NG_009260.2:g.10201A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000216124.10:c.*2166A>G MANE Select	ENSP00000216124.5:n.*2166A>G
ENST00000608497.1:c.351A>G
ENST00000610191.1:n.348A>G
NM_000487.5:c.*2166A>G	NP_000478.3:n.*2166A>G
NM_001085425.2:c.*2166A>G	NP_001078894.2:n.*2166A>G
NM_001085426.2:c.*2166A>G	NP_001078895.2:n.*2166A>G
NM_001085427.2:c.*2166A>G	NP_001078896.2:n.*2166A>G
NM_001085428.2:c.*2166A>G	NP_001078897.1:n.*2166A>G
NM_001362782.1:c.*2166A>G	NP_001349711.1:n.*2166A>G
NM_000487.6:c.*2166A>G MANE Select	NP_000478.3:n.*2166A>G
NM_001085425.3:c.*2166A>G	NP_001078894.2:n.*2166A>G
NM_001085426.3:c.*2166A>G	NP_001078895.2:n.*2166A>G
NM_001085427.3:c.*2166A>G	NP_001078896.2:n.*2166A>G
NM_001085428.3:c.*2166A>G	NP_001078897.1:n.*2166A>G
NM_001362782.2:c.*2166A>G	NP_001349711.1:n.*2166A>G