Canonical Allele Identifier: CA1026679344

Gene: ARSA

Linked Data

• dbSNP Id: rs2082633830
• gnomAD v3: 22-50624683-C-G
• gnomAD v4: 22-50624683-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50624683C>G , CM000684.2:g.50624683C>G	GRCh38
NC_000022.10:g.51063111C>G , CM000684.1:g.51063111C>G	GRCh37
NC_000022.9:g.49409977C>G	NCBI36
NG_009260.2:g.8497G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000216124.10:c.*462G>C MANE Select	ENSP00000216124.5:n.*462G>C
ENST00000608497.1:c.180+680G>C
NM_000487.5:c.*462G>C	NP_000478.3:n.*462G>C
NM_001085425.2:c.*462G>C	NP_001078894.2:n.*462G>C
NM_001085426.2:c.*462G>C	NP_001078895.2:n.*462G>C
NM_001085427.2:c.*462G>C	NP_001078896.2:n.*462G>C
NM_001085428.2:c.*462G>C	NP_001078897.1:n.*462G>C
NM_001362782.1:c.*462G>C	NP_001349711.1:n.*462G>C
NM_000487.6:c.*462G>C MANE Select	NP_000478.3:n.*462G>C
NM_001085425.3:c.*462G>C	NP_001078894.2:n.*462G>C
NM_001085426.3:c.*462G>C	NP_001078895.2:n.*462G>C
NM_001085427.3:c.*462G>C	NP_001078896.2:n.*462G>C
NM_001085428.3:c.*462G>C	NP_001078897.1:n.*462G>C
NM_001362782.2:c.*462G>C	NP_001349711.1:n.*462G>C