Canonical Allele Identifier: CA640051378

Gene: ARSA

Linked Data

• gnomAD: 22:51063452 C / T
• MyVariant Identifiers: chr22:g.51063452C>T (hg19) ; chr22:g.50625024C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50625024C>T , CM000684.2:g.50625024C>T	GRCh38
NC_000022.10:g.51063452C>T , CM000684.1:g.51063452C>T	GRCh37
NC_000022.9:g.49410318C>T	NCBI36
NG_009260.2:g.8156G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000216124.10:c.*121G>A MANE Select	ENSP00000216124.5:p.=
ENST00000216124.9:c.*121G>A	ENSP00000216124.5:p.=
ENST00000356098.9:c.*121G>A	ENSP00000348406.5:p.=
ENST00000608497.1:n.180+339G>A
NM_000487.5:c.*121G>A	NP_000478.3:p.=
NM_001085425.2:c.*121G>A	NP_001078894.2:p.=
NM_001085426.2:c.*121G>A	NP_001078895.2:p.=
NM_001085427.2:c.*121G>A	NP_001078896.2:p.=
NM_001085428.2:c.*121G>A	NP_001078897.1:p.=
XM_011530690.1:c.*121G>A	XP_011528992.1:p.=
XM_011530691.1:c.*384G>A	XP_011528993.1:p.=
NM_001362782.1:c.*121G>A	NP_001349711.1:p.=
XM_011530691.3:c.*384G>A	XP_011528993.1:p.=
XM_017028800.1:c.*121G>A	XP_016884289.1:p.=
XM_024452241.1:c.*384G>A	XP_024308009.1:p.=
NM_000487.6:c.*121G>A MANE Select	NP_000478.3:p.=
NM_001085425.3:c.*121G>A	NP_001078894.2:p.=
NM_001085426.3:c.*121G>A	NP_001078895.2:p.=
NM_001085427.3:c.*121G>A	NP_001078896.2:p.=
NM_001085428.3:c.*121G>A	NP_001078897.1:p.=
NM_001362782.2:c.*121G>A	NP_001349711.1:p.=