Canonical Allele Identifier: CA360338885
Gene: ARSB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.78780456G>T , CM000667.2:g.78780456G>T GRCh38
NC_000005.9:g.78076279G>T , CM000667.1:g.78076279G>T GRCh37
NC_000005.8:g.78112035G>T NCBI36
NG_007089.1:g.211079C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000264914.10:c.1543C>A MANE Select ENSP00000264914.4:p.Pro515Thr
ENST00000264914.8:c.1543C>A ENSP00000264914.4:p.Pro515Thr
ENST00000521011.1:n.508C>A
NM_000046.3:c.1543C>A NP_000037.2:p.Pro515Thr
XM_011543390.1:c.1543C>A XP_011541692.1:p.Pro515Thr
NM_000046.4:c.1543C>A NP_000037.2:p.Pro515Thr
NM_000046.5:c.1543C>A MANE Select NP_000037.2:p.Pro515Thr