Canonical Allele Identifier: CA2410958046

Gene: ARSA

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50624551G= , CM000684.2:g.50624551G=	GRCh38
NC_000022.10:g.51062979G= , CM000684.1:g.51062979G=	GRCh37
NC_000022.9:g.49409845G=	NCBI36
NG_009260.2:g.8629C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216124.10:c.*594C= MANE Select	ENSP00000216124.5:n.*594C=
ENST00000608497.1:c.181-656C=
NM_000487.5:c.*594C=	NP_000478.3:n.*594C=
NM_001085425.2:c.*594C=	NP_001078894.2:n.*594C=
NM_001085426.2:c.*594C=	NP_001078895.2:n.*594C=
NM_001085427.2:c.*594C=	NP_001078896.2:n.*594C=
NM_001085428.2:c.*594C=	NP_001078897.1:n.*594C=
NM_001362782.1:c.*594C=	NP_001349711.1:n.*594C=
NM_000487.6:c.*594C= MANE Select	NP_000478.3:n.*594C=
NM_001085425.3:c.*594C=	NP_001078894.2:n.*594C=
NM_001085426.3:c.*594C=	NP_001078895.2:n.*594C=
NM_001085427.3:c.*594C=	NP_001078896.2:n.*594C=
NM_001085428.3:c.*594C=	NP_001078897.1:n.*594C=
NM_001362782.2:c.*594C=	NP_001349711.1:n.*594C=