Canonical Allele Identifier: CA360339074
Gene: ARSB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.78780543C>A , CM000667.2:g.78780543C>A GRCh38
NC_000005.9:g.78076366C>A , CM000667.1:g.78076366C>A GRCh37
NC_000005.8:g.78112122C>A NCBI36
NG_007089.1:g.210992G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264914.10:c.1456G>T MANE Select ENSP00000264914.4:p.Asp486Tyr
ENST00000264914.8:c.1456G>T ENSP00000264914.4:p.Asp486Tyr
ENST00000521011.1:n.421G>T
NM_000046.3:c.1456G>T NP_000037.2:p.Asp486Tyr
XM_011543390.1:c.1456G>T XP_011541692.1:p.Asp486Tyr
NM_000046.4:c.1456G>T NP_000037.2:p.Asp486Tyr
NM_000046.5:c.1456G>T MANE Select NP_000037.2:p.Asp486Tyr