Canonical Allele Identifier: CA412182252

Gene: ARSA

Linked Data

• dbSNP Id: rs2082697969
• gnomAD v3: 22-50627584-C-G
• gnomAD v4: 22-50627584-C-G
• MyVariant Identifiers: chr22:g.51066012C>G (hg19) ; chr22:g.50627584C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50627584C>G , CM000684.2:g.50627584C>G	GRCh38
NC_000022.10:g.51066012C>G , CM000684.1:g.51066012C>G	GRCh37
NC_000022.9:g.49412878C>G	NCBI36
NG_009260.2:g.5596G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216124.10:c.196G>C MANE Select	ENSP00000216124.5:p.Val66Leu
ENST00000216124.9:c.196G>C	ENSP00000216124.5:p.Val66Leu
ENST00000356098.9:c.196G>C	ENSP00000348406.5:p.Val66Leu
ENST00000395619.3:c.196G>C	ENSP00000378981.3:p.Val66Leu
ENST00000395621.7:c.196G>C	ENSP00000378983.3:p.Val66Leu
ENST00000453344.6:c.-34-178G>C	ENSP00000412542.2:n.-34-178G>C
ENST00000551731.1:n.587G>C
NM_000487.5:c.196G>C	NP_000478.3:p.Val66Leu
NM_001085425.2:c.196G>C	NP_001078894.2:p.Val66Leu
NM_001085426.2:c.196G>C	NP_001078895.2:p.Val66Leu
NM_001085427.2:c.196G>C	NP_001078896.2:p.Val66Leu
NM_001085428.2:c.-34-178G>C	NP_001078897.1:n.-34-178G>C
XM_011530690.1:c.-34-178G>C	XP_011528992.1:n.-34-178G>C
XM_011530691.1:c.196G>C	XP_011528993.1:p.Val66Leu
NM_001362782.1:c.-34-178G>C	NP_001349711.1:n.-34-178G>C
XM_011530691.3:c.196G>C	XP_011528993.1:p.Val66Leu
XM_017028800.1:c.196G>C	XP_016884289.1:p.Val66Leu
XM_024452241.1:c.196G>C	XP_024308009.1:p.Val66Leu
NM_000487.6:c.196G>C MANE Select	NP_000478.3:p.Val66Leu
NM_001085425.3:c.196G>C	NP_001078894.2:p.Val66Leu
NM_001085426.3:c.196G>C	NP_001078895.2:p.Val66Leu
NM_001085427.3:c.196G>C	NP_001078896.2:p.Val66Leu
NM_001085428.3:c.-34-178G>C	NP_001078897.1:n.-34-178G>C
NM_001362782.2:c.-34-178G>C	NP_001349711.1:n.-34-178G>C