Canonical Allele Identifier: CA640051346

Gene: ARSA

Linked Data

• dbSNP Id: rs1344322267
• gnomAD v2: 22-51063144-G-A
• gnomAD v3: 22-50624716-G-A
• gnomAD v4: 22-50624716-G-A
• MyVariant Identifiers: chr22:g.51063144G>A (hg19) ; chr22:g.50624716G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50624716G>A , CM000684.2:g.50624716G>A	GRCh38
NC_000022.10:g.51063144G>A , CM000684.1:g.51063144G>A	GRCh37
NC_000022.9:g.49410010G>A	NCBI36
NG_009260.2:g.8464C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216124.10:c.*429C>T MANE Select	ENSP00000216124.5:n.*429C>T
ENST00000608497.1:c.180+647C>T
NM_000487.5:c.*429C>T	NP_000478.3:n.*429C>T
NM_001085425.2:c.*429C>T	NP_001078894.2:n.*429C>T
NM_001085426.2:c.*429C>T	NP_001078895.2:n.*429C>T
NM_001085427.2:c.*429C>T	NP_001078896.2:n.*429C>T
NM_001085428.2:c.*429C>T	NP_001078897.1:n.*429C>T
NM_001362782.1:c.*429C>T	NP_001349711.1:n.*429C>T
NM_000487.6:c.*429C>T MANE Select	NP_000478.3:n.*429C>T
NM_001085425.3:c.*429C>T	NP_001078894.2:n.*429C>T
NM_001085426.3:c.*429C>T	NP_001078895.2:n.*429C>T
NM_001085427.3:c.*429C>T	NP_001078896.2:n.*429C>T
NM_001085428.3:c.*429C>T	NP_001078897.1:n.*429C>T
NM_001362782.2:c.*429C>T	NP_001349711.1:n.*429C>T