Canonical Allele Identifier: CA10324710

Gene: ARSA

Linked Data

• ClinVar Variation Id: 900839
• ClinVar RCV Id: RCV001146320 ; RCV001561920
• dbSNP Id: rs377187248
• ExAC: 22:51063558 C / T
• gnomAD v2: 22-51063558-C-T
• gnomAD v3: 22-50625130-C-T
• gnomAD v4: 22-50625130-C-T
• MyVariant Identifiers: chr22:g.51063558C>T (hg19) ; chr22:g.50625130C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50625130C>T , CM000684.2:g.50625130C>T	GRCh38
NC_000022.10:g.51063558C>T , CM000684.1:g.51063558C>T	GRCh37
NC_000022.9:g.49410424C>T	NCBI36
NG_009260.2:g.8050G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000216124.10:c.*15G>A MANE Select	ENSP00000216124.5:n.*15G>A
ENST00000216124.9:c.*15G>A	ENSP00000216124.5:n.*15G>A
ENST00000356098.9:c.*15G>A	ENSP00000348406.5:n.*15G>A
ENST00000395619.3:c.*15G>A	ENSP00000378981.3:n.*15G>A
ENST00000395621.7:c.*15G>A	ENSP00000378983.3:n.*15G>A
ENST00000453344.6:c.*15G>A	ENSP00000412542.2:n.*15G>A
ENST00000608497.1:c.180+233G>A
NM_000487.5:c.*15G>A	NP_000478.3:n.*15G>A
NM_001085425.2:c.*15G>A	NP_001078894.2:n.*15G>A
NM_001085426.2:c.*15G>A	NP_001078895.2:n.*15G>A
NM_001085427.2:c.*15G>A	NP_001078896.2:n.*15G>A
NM_001085428.2:c.*15G>A	NP_001078897.1:n.*15G>A
XM_011530690.1:c.*15G>A	XP_011528992.1:n.*15G>A
XM_011530691.1:c.*278G>A	XP_011528993.1:n.*278G>A
NM_001362782.1:c.*15G>A	NP_001349711.1:n.*15G>A
XM_011530691.3:c.*278G>A	XP_011528993.1:n.*278G>A
XM_017028800.1:c.*15G>A	XP_016884289.1:n.*15G>A
XM_024452241.1:c.*278G>A	XP_024308009.1:n.*278G>A
NM_000487.6:c.*15G>A MANE Select	NP_000478.3:n.*15G>A
NM_001085425.3:c.*15G>A	NP_001078894.2:n.*15G>A
NM_001085426.3:c.*15G>A	NP_001078895.2:n.*15G>A
NM_001085427.3:c.*15G>A	NP_001078896.2:n.*15G>A
NM_001085428.3:c.*15G>A	NP_001078897.1:n.*15G>A
NM_001362782.2:c.*15G>A	NP_001349711.1:n.*15G>A