Canonical Allele Identifier: CA219000

Gene: ARSA

Linked Data

• ClinVar Variation Id: 68122
• ClinVar RCV Id: RCV000058952 ; RCV000667096 ; RCV002222376
• dbSNP Id: rs199476388
• ExAC: 22:51063632 A / C
• gnomAD v2: 22-51063632-A-C
• gnomAD v4: 22-50625204-A-C
• MyVariant Identifiers: chr22:g.51063632A>C (hg19) ; chr22:g.50625204A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50625204A>C , CM000684.2:g.50625204A>C	GRCh38
NC_000022.10:g.51063632A>C , CM000684.1:g.51063632A>C	GRCh37
NC_000022.9:g.49410498A>C	NCBI36
NG_009260.2:g.7976T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000216124.10:c.1471T>G MANE Select	ENSP00000216124.5:p.Cys491Gly
ENST00000216124.9:c.1471T>G	ENSP00000216124.5:p.Cys491Gly
ENST00000356098.9:c.1471T>G	ENSP00000348406.5:p.Cys491Gly
ENST00000395619.3:c.1471T>G	ENSP00000378981.3:p.Cys491Gly
ENST00000395621.7:c.1471T>G	ENSP00000378983.3:p.Cys491Gly
ENST00000453344.6:c.1213T>G	ENSP00000412542.2:p.Cys405Gly
ENST00000608497.1:c.180+159T>G
NM_000487.5:c.1471T>G	NP_000478.3:p.Cys491Gly
NM_001085425.2:c.1471T>G	NP_001078894.2:p.Cys491Gly
NM_001085426.2:c.1471T>G	NP_001078895.2:p.Cys491Gly
NM_001085427.2:c.1471T>G	NP_001078896.2:p.Cys491Gly
NM_001085428.2:c.1213T>G	NP_001078897.1:p.Cys405Gly
XM_011530690.1:c.1213T>G	XP_011528992.1:p.Cys405Gly
XM_011530691.1:c.*204T>G	XP_011528993.1:n.*204T>G
NM_001362782.1:c.1213T>G	NP_001349711.1:p.Cys405Gly
XM_011530691.3:c.*204T>G	XP_011528993.1:n.*204T>G
XM_017028800.1:c.1585T>G	XP_016884289.1:p.Cys529Gly
XM_024452241.1:c.*204T>G	XP_024308009.1:n.*204T>G
NM_000487.6:c.1471T>G MANE Select	NP_000478.3:p.Cys491Gly
NM_001085425.3:c.1471T>G	NP_001078894.2:p.Cys491Gly
NM_001085426.3:c.1471T>G	NP_001078895.2:p.Cys491Gly
NM_001085427.3:c.1471T>G	NP_001078896.2:p.Cys491Gly
NM_001085428.3:c.1213T>G	NP_001078897.1:p.Cys405Gly
NM_001362782.2:c.1213T>G	NP_001349711.1:p.Cys405Gly