Canonical Allele Identifier: CA412166677

Gene: ARSA

Linked Data

• gnomAD v4: 22-50625163-G-T
• MyVariant Identifiers: chr22:g.51063591G>T (hg19) ; chr22:g.50625163G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50625163G>T , CM000684.2:g.50625163G>T	GRCh38
NC_000022.10:g.51063591G>T , CM000684.1:g.51063591G>T	GRCh37
NC_000022.9:g.49410457G>T	NCBI36
NG_009260.2:g.8017C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000216124.10:c.1512C>A MANE Select	ENSP00000216124.5:p.Cys504Ter
ENST00000216124.9:c.1512C>A	ENSP00000216124.5:p.Cys504Ter
ENST00000356098.9:c.1512C>A	ENSP00000348406.5:p.Cys504Ter
ENST00000395619.3:c.1512C>A	ENSP00000378981.3:p.Cys504Ter
ENST00000395621.7:c.1512C>A	ENSP00000378983.3:p.Cys504Ter
ENST00000453344.6:c.1254C>A	ENSP00000412542.2:p.Cys418Ter
ENST00000608497.1:c.180+200C>A
NM_000487.5:c.1512C>A	NP_000478.3:p.Cys504Ter
NM_001085425.2:c.1512C>A	NP_001078894.2:p.Cys504Ter
NM_001085426.2:c.1512C>A	NP_001078895.2:p.Cys504Ter
NM_001085427.2:c.1512C>A	NP_001078896.2:p.Cys504Ter
NM_001085428.2:c.1254C>A	NP_001078897.1:p.Cys418Ter
XM_011530690.1:c.1254C>A	XP_011528992.1:p.Cys418Ter
XM_011530691.1:c.*245C>A	XP_011528993.1:n.*245C>A
NM_001362782.1:c.1254C>A	NP_001349711.1:p.Cys418Ter
XM_011530691.3:c.*245C>A	XP_011528993.1:n.*245C>A
XM_017028800.1:c.1626C>A	XP_016884289.1:p.Cys542Ter
XM_024452241.1:c.*245C>A	XP_024308009.1:n.*245C>A
NM_000487.6:c.1512C>A MANE Select	NP_000478.3:p.Cys504Ter
NM_001085425.3:c.1512C>A	NP_001078894.2:p.Cys504Ter
NM_001085426.3:c.1512C>A	NP_001078895.2:p.Cys504Ter
NM_001085427.3:c.1512C>A	NP_001078896.2:p.Cys504Ter
NM_001085428.3:c.1254C>A	NP_001078897.1:p.Cys418Ter
NM_001362782.2:c.1254C>A	NP_001349711.1:p.Cys418Ter