Canonical Allele Identifier: CA2657588619

Gene: ARSA

Linked Data

• gnomAD v4: 22-50623147-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50623147G>A , CM000684.2:g.50623147G>A	GRCh38
NC_000022.10:g.51061575G>A , CM000684.1:g.51061575G>A	GRCh37
NC_000022.9:g.49408441G>A	NCBI36
NG_009260.2:g.10033C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000216124.10:c.*1998C>T MANE Select	ENSP00000216124.5:n.*1998C>T
ENST00000608497.1:c.303-120C>T
ENST00000610191.1:n.180C>T
NM_000487.5:c.*1998C>T	NP_000478.3:n.*1998C>T
NM_001085425.2:c.*1998C>T	NP_001078894.2:n.*1998C>T
NM_001085426.2:c.*1998C>T	NP_001078895.2:n.*1998C>T
NM_001085427.2:c.*1998C>T	NP_001078896.2:n.*1998C>T
NM_001085428.2:c.*1998C>T	NP_001078897.1:n.*1998C>T
NM_001362782.1:c.*1998C>T	NP_001349711.1:n.*1998C>T
NM_000487.6:c.*1998C>T MANE Select	NP_000478.3:n.*1998C>T
NM_001085425.3:c.*1998C>T	NP_001078894.2:n.*1998C>T
NM_001085426.3:c.*1998C>T	NP_001078895.2:n.*1998C>T
NM_001085427.3:c.*1998C>T	NP_001078896.2:n.*1998C>T
NM_001085428.3:c.*1998C>T	NP_001078897.1:n.*1998C>T
NM_001362782.2:c.*1998C>T	NP_001349711.1:n.*1998C>T