Canonical Allele Identifier: CA341097
Gene: ARSE HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 11529
dbSNP Id: rs80338714

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.2934859C>T , CM000685.2:g.2934859C>T GRCh38
NC_000023.10:g.2852900C>T , CM000685.1:g.2852900C>T GRCh37
NC_000023.9:g.2862900C>T NCBI36
NG_007091.1:g.34412G>A

Transcript Alleles

HGVS Amino-acid change
NM_000047.2:c.1743G>A VV NP_000038.2:p.Trp581Ter
NM_001282628.1:c.1818G>A VV NP_001269557.1:p.Trp606Ter
NM_001282631.1:c.1608G>A VV NP_001269560.1:p.Trp536Ter
XM_005274518.2:c.1770G>A XP_005274575.1:p.Trp590Ter
XM_005274519.3:c.1743G>A XP_005274576.1:p.Trp581Ter
XM_005274521.3:c.1581G>A XP_005274578.1:p.Trp527Ter
XM_011545519.1:c.1581G>A XP_011543821.1:p.Trp527Ter
XM_011545520.1:c.1257G>A XP_011543822.1:p.Trp419Ter
XM_011545521.1:c.1182G>A XP_011543823.1:p.Trp394Ter
XM_005274519.4:c.1743G>A XP_005274576.1:p.Trp581Ter
XM_005274521.4:c.1581G>A XP_005274578.1:p.Trp527Ter
XM_017029525.1:c.1818G>A XP_016885014.1:p.Trp606Ter
XM_017029526.1:c.1257G>A XP_016885015.1:p.Trp419Ter
ENST00000381134.7:c.1743G>A ENSP00000370526.3:p.Trp581Ter
ENST00000540563.5:c.1608G>A ENSP00000438198.1:p.Trp536Ter
ENST00000545496.5:c.1818G>A ENSP00000441417.1:p.Trp606Ter