Canonical Allele Identifier: CA515391473

Gene: ARSA

Linked Data

• ClinVar Variation Id: 973789
• ClinVar RCV Id: RCV001250462
• dbSNP Id: rs1175674325
• gnomAD v3: 22-50625589-G-A
• gnomAD v4: 22-50625589-G-A
• MyVariant Identifiers: chr22:g.51064017G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50625589G>A , CM000684.2:g.50625589G>A	GRCh38
NC_000022.10:g.51064017G>A , CM000684.1:g.51064017G>A	GRCh37
NC_000022.9:g.49410883G>A	NCBI36
NG_009260.2:g.7591C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000216124.10:c.1200C>T MANE Select	ENSP00000216124.5:p.Phe400=
ENST00000216124.9:c.1200C>T	ENSP00000216124.5:p.Phe400=
ENST00000356098.9:c.1200C>T	ENSP00000348406.5:p.Phe400=
ENST00000395619.3:c.1200C>T	ENSP00000378981.3:p.Phe400=
ENST00000395621.7:c.1200C>T	ENSP00000378983.3:p.Phe400=
ENST00000453344.6:c.942C>T	ENSP00000412542.2:p.Phe314=
ENST00000608497.1:c.68C>T
NM_000487.5:c.1200C>T	NP_000478.3:p.Phe400=
NM_001085425.2:c.1200C>T	NP_001078894.2:p.Phe400=
NM_001085426.2:c.1200C>T	NP_001078895.2:p.Phe400=
NM_001085427.2:c.1200C>T	NP_001078896.2:p.Phe400=
NM_001085428.2:c.942C>T	NP_001078897.1:p.Phe314=
XM_011530690.1:c.942C>T	XP_011528992.1:p.Phe314=
XM_011530691.1:c.1108-125C>T	XP_011528993.1:n.1108-125C>T
NM_001362782.1:c.942C>T	NP_001349711.1:p.Phe314=
XM_011530691.3:c.1108-125C>T	XP_011528993.1:n.1108-125C>T
XM_017028800.1:c.1200C>T	XP_016884289.1:p.Phe400=
XM_024452241.1:c.1108-125C>T	XP_024308009.1:n.1108-125C>T
NM_000487.6:c.1200C>T MANE Select	NP_000478.3:p.Phe400=
NM_001085425.3:c.1200C>T	NP_001078894.2:p.Phe400=
NM_001085426.3:c.1200C>T	NP_001078895.2:p.Phe400=
NM_001085427.3:c.1200C>T	NP_001078896.2:p.Phe400=
NM_001085428.3:c.942C>T	NP_001078897.1:p.Phe314=
NM_001362782.2:c.942C>T	NP_001349711.1:p.Phe314=