Canonical Allele Identifier: CA2410958184

Gene: ARSA

Linked Data

• dbSNP Id: rs2082636288

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50624844A>C , CM000684.2:g.50624844A>C	GRCh38
NC_000022.10:g.51063272A>C , CM000684.1:g.51063272A>C	GRCh37
NC_000022.9:g.49410138A>C	NCBI36
NG_009260.2:g.8336T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000216124.10:c.*301T>G MANE Select	ENSP00000216124.5:n.*301T>G
ENST00000608497.1:c.180+519T>G
NM_000487.5:c.*301T>G	NP_000478.3:n.*301T>G
NM_001085425.2:c.*301T>G	NP_001078894.2:n.*301T>G
NM_001085426.2:c.*301T>G	NP_001078895.2:n.*301T>G
NM_001085427.2:c.*301T>G	NP_001078896.2:n.*301T>G
NM_001085428.2:c.*301T>G	NP_001078897.1:n.*301T>G
NM_001362782.1:c.*301T>G	NP_001349711.1:n.*301T>G
NM_000487.6:c.*301T>G MANE Select	NP_000478.3:n.*301T>G
NM_001085425.3:c.*301T>G	NP_001078894.2:n.*301T>G
NM_001085426.3:c.*301T>G	NP_001078895.2:n.*301T>G
NM_001085427.3:c.*301T>G	NP_001078896.2:n.*301T>G
NM_001085428.3:c.*301T>G	NP_001078897.1:n.*301T>G
NM_001362782.2:c.*301T>G	NP_001349711.1:n.*301T>G