Canonical Allele Identifier: CA2657590288

Gene: ARSA

Linked Data

• gnomAD v4: 22-50625020-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50625020G>T , CM000684.2:g.50625020G>T	GRCh38
NC_000022.10:g.51063448G>T , CM000684.1:g.51063448G>T	GRCh37
NC_000022.9:g.49410314G>T	NCBI36
NG_009260.2:g.8160C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000216124.10:c.*125C>A MANE Select	ENSP00000216124.5:n.*125C>A
ENST00000216124.9:c.*125C>A	ENSP00000216124.5:n.*125C>A
ENST00000356098.9:c.*125C>A	ENSP00000348406.5:n.*125C>A
ENST00000608497.1:c.180+343C>A
NM_000487.5:c.*125C>A	NP_000478.3:n.*125C>A
NM_001085425.2:c.*125C>A	NP_001078894.2:n.*125C>A
NM_001085426.2:c.*125C>A	NP_001078895.2:n.*125C>A
NM_001085427.2:c.*125C>A	NP_001078896.2:n.*125C>A
NM_001085428.2:c.*125C>A	NP_001078897.1:n.*125C>A
NM_001362782.1:c.*125C>A	NP_001349711.1:n.*125C>A
NM_000487.6:c.*125C>A MANE Select	NP_000478.3:n.*125C>A
NM_001085425.3:c.*125C>A	NP_001078894.2:n.*125C>A
NM_001085426.3:c.*125C>A	NP_001078895.2:n.*125C>A
NM_001085427.3:c.*125C>A	NP_001078896.2:n.*125C>A
NM_001085428.3:c.*125C>A	NP_001078897.1:n.*125C>A
NM_001362782.2:c.*125C>A	NP_001349711.1:n.*125C>A