Canonical Allele Identifier: CA360339084

Gene: ARSB

Linked Data

• MyVariant Identifiers: chr5:g.78076371C>A (hg19) ; chr5:g.78780548C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.78780548C>A , CM000667.2:g.78780548C>A	GRCh38
NC_000005.9:g.78076371C>A , CM000667.1:g.78076371C>A	GRCh37
NC_000005.8:g.78112127C>A	NCBI36
NG_007089.1:g.210987G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264914.10:c.1451G>T MANE Select	ENSP00000264914.4:p.Arg484Ile
ENST00000264914.8:c.1451G>T	ENSP00000264914.4:p.Arg484Ile
ENST00000521011.1:n.416G>T
NM_000046.3:c.1451G>T	NP_000037.2:p.Arg484Ile
XM_011543390.1:c.1451G>T	XP_011541692.1:p.Arg484Ile
NM_000046.4:c.1451G>T	NP_000037.2:p.Arg484Ile
NM_000046.5:c.1451G>T MANE Select	NP_000037.2:p.Arg484Ile