Canonical Allele Identifier: CA360339066
Gene: ARSB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.78780541G>C , CM000667.2:g.78780541G>C GRCh38
NC_000005.9:g.78076364G>C , CM000667.1:g.78076364G>C GRCh37
NC_000005.8:g.78112120G>C NCBI36
NG_007089.1:g.210994C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264914.10:c.1458C>G MANE Select ENSP00000264914.4:p.Asp486Glu
ENST00000264914.8:c.1458C>G ENSP00000264914.4:p.Asp486Glu
ENST00000521011.1:n.423C>G
NM_000046.3:c.1458C>G NP_000037.2:p.Asp486Glu
XM_011543390.1:c.1458C>G XP_011541692.1:p.Asp486Glu
NM_000046.4:c.1458C>G NP_000037.2:p.Asp486Glu
NM_000046.5:c.1458C>G MANE Select NP_000037.2:p.Asp486Glu