Canonical Allele Identifier: CA2410958240

Gene: ARSA

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50624973A= , CM000684.2:g.50624973A=	GRCh38
NC_000022.10:g.51063401A= , CM000684.1:g.51063401A=	GRCh37
NC_000022.9:g.49410267A=	NCBI36
NG_009260.2:g.8207T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000216124.10:c.*172T= MANE Select	ENSP00000216124.5:n.*172T=
ENST00000608497.1:c.180+390T=
NM_000487.5:c.*172T=	NP_000478.3:n.*172T=
NM_001085425.2:c.*172T=	NP_001078894.2:n.*172T=
NM_001085426.2:c.*172T=	NP_001078895.2:n.*172T=
NM_001085427.2:c.*172T=	NP_001078896.2:n.*172T=
NM_001085428.2:c.*172T=	NP_001078897.1:n.*172T=
NM_001362782.1:c.*172T=	NP_001349711.1:n.*172T=
NM_000487.6:c.*172T= MANE Select	NP_000478.3:n.*172T=
NM_001085425.3:c.*172T=	NP_001078894.2:n.*172T=
NM_001085426.3:c.*172T=	NP_001078895.2:n.*172T=
NM_001085427.3:c.*172T=	NP_001078896.2:n.*172T=
NM_001085428.3:c.*172T=	NP_001078897.1:n.*172T=
NM_001362782.2:c.*172T=	NP_001349711.1:n.*172T=