Canonical Allele Identifier: CA219090

Gene: ARSA

Linked Data

• ClinVar Variation Id: 68167
• ClinVar RCV Id: RCV000058999 ; RCV000665708
• dbSNP Id: rs199476368
• gnomAD v4: 22-50626187-C-T
• MyVariant Identifiers: chr22:g.51064615C>T (hg19) ; chr22:g.50626187C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50626187C>T , CM000684.2:g.50626187C>T	GRCh38
NC_000022.10:g.51064615C>T , CM000684.1:g.51064615C>T	GRCh37
NC_000022.9:g.49411481C>T	NCBI36
NG_009260.2:g.6993G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216124.10:c.946G>A MANE Select	ENSP00000216124.5:p.Ala316Thr
ENST00000216124.9:c.946G>A	ENSP00000216124.5:p.Ala316Thr
ENST00000356098.9:c.946G>A	ENSP00000348406.5:p.Ala316Thr
ENST00000395619.3:c.946G>A	ENSP00000378981.3:p.Ala316Thr
ENST00000395621.7:c.946G>A	ENSP00000378983.3:p.Ala316Thr
ENST00000453344.6:c.688G>A	ENSP00000412542.2:p.Ala230Thr
NM_000487.5:c.946G>A	NP_000478.3:p.Ala316Thr
NM_001085425.2:c.946G>A	NP_001078894.2:p.Ala316Thr
NM_001085426.2:c.946G>A	NP_001078895.2:p.Ala316Thr
NM_001085427.2:c.946G>A	NP_001078896.2:p.Ala316Thr
NM_001085428.2:c.688G>A	NP_001078897.1:p.Ala230Thr
XM_011530690.1:c.688G>A	XP_011528992.1:p.Ala230Thr
XM_011530691.1:c.946G>A	XP_011528993.1:p.Ala316Thr
NM_001362782.1:c.688G>A	NP_001349711.1:p.Ala230Thr
XM_011530691.3:c.946G>A	XP_011528993.1:p.Ala316Thr
XM_017028800.1:c.946G>A	XP_016884289.1:p.Ala316Thr
XM_024452241.1:c.946G>A	XP_024308009.1:p.Ala316Thr
NM_000487.6:c.946G>A MANE Select	NP_000478.3:p.Ala316Thr
NM_001085425.3:c.946G>A	NP_001078894.2:p.Ala316Thr
NM_001085426.3:c.946G>A	NP_001078895.2:p.Ala316Thr
NM_001085427.3:c.946G>A	NP_001078896.2:p.Ala316Thr
NM_001085428.3:c.688G>A	NP_001078897.1:p.Ala230Thr
NM_001362782.2:c.688G>A	NP_001349711.1:p.Ala230Thr