Canonical Allele Identifier: CA2410959461

Gene: ARSA

Linked Data

• ClinVar Variation Id: 1021726
• ClinVar RCV Id: RCV001321529
• dbSNP Id: rs2082686619

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50627163T>C , CM000684.2:g.50627163T>C	GRCh38
NC_000022.10:g.51065591T>C , CM000684.1:g.51065591T>C	GRCh37
NC_000022.9:g.49412457T>C	NCBI36
NG_009260.2:g.6017A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000216124.10:c.465+3A>G MANE Select	ENSP00000216124.5:n.465+3A>G
ENST00000216124.9:c.465+3A>G	ENSP00000216124.5:n.465+3A>G
ENST00000356098.9:c.465+3A>G	ENSP00000348406.5:n.465+3A>G
ENST00000395619.3:c.465+3A>G	ENSP00000378981.3:n.465+3A>G
ENST00000395621.7:c.465+3A>G	ENSP00000378983.3:n.465+3A>G
ENST00000453344.6:c.207+3A>G	ENSP00000412542.2:n.207+3A>G
ENST00000551731.1:n.859A>G
NM_000487.5:c.465+3A>G	NP_000478.3:n.465+3A>G
NM_001085425.2:c.465+3A>G	NP_001078894.2:n.465+3A>G
NM_001085426.2:c.465+3A>G	NP_001078895.2:n.465+3A>G
NM_001085427.2:c.465+3A>G	NP_001078896.2:n.465+3A>G
NM_001085428.2:c.207+3A>G	NP_001078897.1:n.207+3A>G
XM_011530690.1:c.207+3A>G	XP_011528992.1:n.207+3A>G
XM_011530691.1:c.465+3A>G	XP_011528993.1:n.465+3A>G
NM_001362782.1:c.207+3A>G	NP_001349711.1:n.207+3A>G
XM_011530691.3:c.465+3A>G	XP_011528993.1:n.465+3A>G
XM_017028800.1:c.465+3A>G	XP_016884289.1:n.465+3A>G
XM_024452241.1:c.465+3A>G	XP_024308009.1:n.465+3A>G
NM_000487.6:c.465+3A>G MANE Select	NP_000478.3:n.465+3A>G
NM_001085425.3:c.465+3A>G	NP_001078894.2:n.465+3A>G
NM_001085426.3:c.465+3A>G	NP_001078895.2:n.465+3A>G
NM_001085427.3:c.465+3A>G	NP_001078896.2:n.465+3A>G
NM_001085428.3:c.207+3A>G	NP_001078897.1:n.207+3A>G
NM_001362782.2:c.207+3A>G	NP_001349711.1:n.207+3A>G