Canonical Allele Identifier: CA1557615369
Gene: ARSB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.78780457G= , CM000667.2:g.78780457G= GRCh38
NC_000005.9:g.78076280G= , CM000667.1:g.78076280G= GRCh37
NC_000005.8:g.78112036G= NCBI36
NG_007089.1:g.211078C=

Transcript Alleles

HGVS Amino-acid change
ENST00000264914.10:c.1542C= MANE Select ENSP00000264914.4:p.Phe514=
ENST00000264914.8:c.1542C= ENSP00000264914.4:p.Phe514=
ENST00000521011.1:n.507C=
NM_000046.3:c.1542C= NP_000037.2:p.Phe514=
XM_011543390.1:c.1542C= XP_011541692.1:p.Phe514=
NM_000046.4:c.1542C= NP_000037.2:p.Phe514=
NM_000046.5:c.1542C= MANE Select NP_000037.2:p.Phe514=