Canonical Allele Identifier: CA360338901
Gene: ARSB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.78780462A>C , CM000667.2:g.78780462A>C GRCh38
NC_000005.9:g.78076285A>C , CM000667.1:g.78076285A>C GRCh37
NC_000005.8:g.78112041A>C NCBI36
NG_007089.1:g.211073T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000264914.10:c.1537T>G MANE Select ENSP00000264914.4:p.Tyr513Asp
ENST00000264914.8:c.1537T>G ENSP00000264914.4:p.Tyr513Asp
ENST00000521011.1:n.502T>G
NM_000046.3:c.1537T>G NP_000037.2:p.Tyr513Asp
XM_011543390.1:c.1537T>G XP_011541692.1:p.Tyr513Asp
NM_000046.4:c.1537T>G NP_000037.2:p.Tyr513Asp
NM_000046.5:c.1537T>G MANE Select NP_000037.2:p.Tyr513Asp