Canonical Allele Identifier: CA2657589277

Gene: ARSA

Linked Data

• gnomAD v4: 22-50623828-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50623828G>T , CM000684.2:g.50623828G>T	GRCh38
NC_000022.10:g.51062256G>T , CM000684.1:g.51062256G>T	GRCh37
NC_000022.9:g.49409122G>T	NCBI36
NG_009260.2:g.9352C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000216124.10:c.*1317C>A MANE Select	ENSP00000216124.5:n.*1317C>A
ENST00000608497.1:c.248C>A
NM_000487.5:c.*1317C>A	NP_000478.3:n.*1317C>A
NM_001085425.2:c.*1317C>A	NP_001078894.2:n.*1317C>A
NM_001085426.2:c.*1317C>A	NP_001078895.2:n.*1317C>A
NM_001085427.2:c.*1317C>A	NP_001078896.2:n.*1317C>A
NM_001085428.2:c.*1317C>A	NP_001078897.1:n.*1317C>A
NM_001362782.1:c.*1317C>A	NP_001349711.1:n.*1317C>A
NM_000487.6:c.*1317C>A MANE Select	NP_000478.3:n.*1317C>A
NM_001085425.3:c.*1317C>A	NP_001078894.2:n.*1317C>A
NM_001085426.3:c.*1317C>A	NP_001078895.2:n.*1317C>A
NM_001085427.3:c.*1317C>A	NP_001078896.2:n.*1317C>A
NM_001085428.3:c.*1317C>A	NP_001078897.1:n.*1317C>A
NM_001362782.2:c.*1317C>A	NP_001349711.1:n.*1317C>A