Canonical Allele Identifier: CA16042043
Gene: ARSA HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371149
ClinVar RCV Id: RCV000409478
dbSNP Id: rs1057517044

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50627054T>C , CM000684.2:g.50627054T>C GRCh38
NC_000022.10:g.51065482T>C , CM000684.1:g.51065482T>C GRCh37
NC_000022.9:g.49412348T>C NCBI36
NG_009260.2:g.6126A>G

Transcript Alleles

HGVS Amino-acid change
NM_000487.5:c.466-2A>G VV NP_000478.3:p.=
NM_001085425.2:c.466-2A>G VV NP_001078894.2:p.=
NM_001085426.2:c.466-2A>G VV NP_001078895.2:p.=
NM_001085427.2:c.466-2A>G VV NP_001078896.2:p.=
NM_001085428.2:c.208-2A>G VV NP_001078897.1:p.=
XM_011530690.1:c.208-2A>G XP_011528992.1:p.=
XM_011530691.1:c.466-2A>G XP_011528993.1:p.=
NM_001362782.1:c.208-2A>G VV NP_001349711.1:p.=
XM_011530691.3:c.466-2A>G
XM_017028800.1:c.466-2A>G XP_016884289.1:p.=
XM_024452241.1:c.466-2A>G XP_024308009.1:p.=
ENST00000216124.9:c.466-2A>G ENSP00000216124.5:p.=
ENST00000356098.9:c.466-2A>G ENSP00000348406.5:p.=
ENST00000395619.3:c.466-2A>G ENSP00000378981.3:p.=
ENST00000395621.7:c.466-2A>G ENSP00000378983.3:p.=
ENST00000453344.6:c.208-2A>G ENSP00000412542.2:p.=
ENST00000551731.1:n.968A>G