Canonical Allele Identifier: CA445400403
Gene: ARSB HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.78076334T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.78780511T>G , CM000667.2:g.78780511T>G GRCh38
NC_000005.9:g.78076334T>G , CM000667.1:g.78076334T>G GRCh37
NC_000005.8:g.78112090T>G NCBI36
NG_007089.1:g.211024A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264914.10:c.1488A>C MANE Select ENSP00000264914.4:p.Thr496=
ENST00000264914.8:c.1488A>C ENSP00000264914.4:p.Thr496=
ENST00000521011.1:n.453A>C
NM_000046.3:c.1488A>C NP_000037.2:p.Thr496=
XM_011543390.1:c.1488A>C XP_011541692.1:p.Thr496=
NM_000046.4:c.1488A>C NP_000037.2:p.Thr496=
NM_000046.5:c.1488A>C MANE Select NP_000037.2:p.Thr496=