Canonical Allele Identifier: CA1026680979

Gene: ARSA

Linked Data

• dbSNP Id: rs2082677501
• gnomAD v3: 22-50626816-T-TG
• gnomAD v4: 22-50626816-T-TG

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50626819dup , CM000684.2:g.50626819dup	GRCh38
NC_000022.10:g.51065247dup , CM000684.1:g.51065247dup	GRCh37
NC_000022.9:g.49412113dup	NCBI36
NG_009260.2:g.6363dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216124.10:c.684+17dup MANE Select	ENSP00000216124.5:n.684+17dup
ENST00000216124.9:c.684+17dup	ENSP00000216124.5:n.684+17dup
ENST00000356098.9:c.684+17dup	ENSP00000348406.5:n.684+17dup
ENST00000395619.3:c.684+17dup	ENSP00000378981.3:n.684+17dup
ENST00000395621.7:c.684+17dup	ENSP00000378983.3:n.684+17dup
ENST00000453344.6:c.426+17dup	ENSP00000412542.2:n.426+17dup
ENST00000551731.1:n.1205dup
NM_000487.5:c.684+17dup	NP_000478.3:n.684+17dup
NM_001085425.2:c.684+17dup	NP_001078894.2:n.684+17dup
NM_001085426.2:c.684+17dup	NP_001078895.2:n.684+17dup
NM_001085427.2:c.684+17dup	NP_001078896.2:n.684+17dup
NM_001085428.2:c.426+17dup	NP_001078897.1:n.426+17dup
XM_011530690.1:c.426+17dup	XP_011528992.1:n.426+17dup
XM_011530691.1:c.684+17dup	XP_011528993.1:n.684+17dup
NM_001362782.1:c.426+17dup	NP_001349711.1:n.426+17dup
XM_011530691.3:c.684+17dup	XP_011528993.1:n.684+17dup
XM_017028800.1:c.684+17dup	XP_016884289.1:n.684+17dup
XM_024452241.1:c.684+17dup	XP_024308009.1:n.684+17dup
NM_000487.6:c.684+17dup MANE Select	NP_000478.3:n.684+17dup
NM_001085425.3:c.684+17dup	NP_001078894.2:n.684+17dup
NM_001085426.3:c.684+17dup	NP_001078895.2:n.684+17dup
NM_001085427.3:c.684+17dup	NP_001078896.2:n.684+17dup
NM_001085428.3:c.426+17dup	NP_001078897.1:n.426+17dup
NM_001362782.2:c.426+17dup	NP_001349711.1:n.426+17dup