Canonical Allele Identifier: CA515391076

Gene: ARSA

Linked Data

• ClinVar Variation Id: 1622576
• ClinVar RCV Id: RCV002104238
• dbSNP Id: rs2146716437
• MyVariant Identifiers: chr22:g.51063786C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50625358C>T , CM000684.2:g.50625358C>T	GRCh38
NC_000022.10:g.51063786C>T , CM000684.1:g.51063786C>T	GRCh37
NC_000022.9:g.49410652C>T	NCBI36
NG_009260.2:g.7822G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000216124.10:c.1317G>A MANE Select	ENSP00000216124.5:p.Glu439=
ENST00000216124.9:c.1317G>A	ENSP00000216124.5:p.Glu439=
ENST00000356098.9:c.1317G>A	ENSP00000348406.5:p.Glu439=
ENST00000395619.3:c.1317G>A	ENSP00000378981.3:p.Glu439=
ENST00000395621.7:c.1317G>A	ENSP00000378983.3:p.Glu439=
ENST00000453344.6:c.1059G>A	ENSP00000412542.2:p.Glu353=
ENST00000608497.1:c.180+5G>A
NM_000487.5:c.1317G>A	NP_000478.3:p.Glu439=
NM_001085425.2:c.1317G>A	NP_001078894.2:p.Glu439=
NM_001085426.2:c.1317G>A	NP_001078895.2:p.Glu439=
NM_001085427.2:c.1317G>A	NP_001078896.2:p.Glu439=
NM_001085428.2:c.1059G>A	NP_001078897.1:p.Glu353=
XM_011530690.1:c.1059G>A	XP_011528992.1:p.Glu353=
XM_011530691.1:c.*50G>A	XP_011528993.1:n.*50G>A
NM_001362782.1:c.1059G>A	NP_001349711.1:p.Glu353=
XM_011530691.3:c.*50G>A	XP_011528993.1:n.*50G>A
XM_017028800.1:c.1431G>A	XP_016884289.1:p.Glu477=
XM_024452241.1:c.*50G>A	XP_024308009.1:n.*50G>A
NM_000487.6:c.1317G>A MANE Select	NP_000478.3:p.Glu439=
NM_001085425.3:c.1317G>A	NP_001078894.2:p.Glu439=
NM_001085426.3:c.1317G>A	NP_001078895.2:p.Glu439=
NM_001085427.3:c.1317G>A	NP_001078896.2:p.Glu439=
NM_001085428.3:c.1059G>A	NP_001078897.1:p.Glu353=
NM_001362782.2:c.1059G>A	NP_001349711.1:p.Glu353=