Canonical Allele Identifier: CA2410958346

Gene: ARSA

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50625176G= , CM000684.2:g.50625176G=	GRCh38
NC_000022.10:g.51063604G= , CM000684.1:g.51063604G=	GRCh37
NC_000022.9:g.49410470G=	NCBI36
NG_009260.2:g.8004C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216124.10:c.1499C= MANE Select	ENSP00000216124.5:p.Ala500=
ENST00000216124.9:c.1499C=	ENSP00000216124.5:p.Ala500=
ENST00000356098.9:c.1499C=	ENSP00000348406.5:p.Ala500=
ENST00000395619.3:c.1499C=	ENSP00000378981.3:p.Ala500=
ENST00000395621.7:c.1499C=	ENSP00000378983.3:p.Ala500=
ENST00000453344.6:c.1241C=	ENSP00000412542.2:p.Ala414=
ENST00000608497.1:c.180+187C=
NM_000487.5:c.1499C=	NP_000478.3:p.Ala500=
NM_001085425.2:c.1499C=	NP_001078894.2:p.Ala500=
NM_001085426.2:c.1499C=	NP_001078895.2:p.Ala500=
NM_001085427.2:c.1499C=	NP_001078896.2:p.Ala500=
NM_001085428.2:c.1241C=	NP_001078897.1:p.Ala414=
XM_011530690.1:c.1241C=	XP_011528992.1:p.Ala414=
XM_011530691.1:c.*232C=	XP_011528993.1:n.*232C=
NM_001362782.1:c.1241C=	NP_001349711.1:p.Ala414=
XM_011530691.3:c.*232C=	XP_011528993.1:n.*232C=
XM_017028800.1:c.1613C=	XP_016884289.1:p.Ala538=
XM_024452241.1:c.*232C=	XP_024308009.1:n.*232C=
NM_000487.6:c.1499C= MANE Select	NP_000478.3:p.Ala500=
NM_001085425.3:c.1499C=	NP_001078894.2:p.Ala500=
NM_001085426.3:c.1499C=	NP_001078895.2:p.Ala500=
NM_001085427.3:c.1499C=	NP_001078896.2:p.Ala500=
NM_001085428.3:c.1241C=	NP_001078897.1:p.Ala414=
NM_001362782.2:c.1241C=	NP_001349711.1:p.Ala414=