Canonical Allele Identifier: CA412275098
Gene: ARSL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.2934864A>G , CM000685.2:g.2934864A>G GRCh38
NC_000023.10:g.2852905A>G , CM000685.1:g.2852905A>G GRCh37
NC_000023.9:g.2862905A>G NCBI36
NG_007091.1:g.34407T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000540563.6:c.1738T>C ENSP00000438198.2:p.Cys580Arg
ENST00000681963.1:c.1813T>C ENSP00000507760.1:p.Cys605Arg
ENST00000682184.1:c.1615T>C ENSP00000507043.1:p.Cys539Arg
ENST00000682364.1:c.1177T>C ENSP00000507604.1:p.Cys393Arg
ENST00000683191.1:n.1518T>C
ENST00000683290.1:c.1813T>C ENSP00000508156.1:p.Cys605Arg
ENST00000683677.1:c.1726T>C ENSP00000506786.1:p.Cys576Arg
ENST00000684077.1:c.1291T>C ENSP00000506767.1:p.Cys431Arg
ENST00000684117.1:c.1576T>C ENSP00000508337.1:p.Cys526Arg
ENST00000684364.1:c.1726T>C ENSP00000507304.1:p.Cys576Arg
ENST00000684738.1:c.1177T>C ENSP00000507481.1:p.Cys393Arg
ENST00000381134.9:c.1738T>C MANE Select ENSP00000370526.3:p.Cys580Arg
ENST00000545496.6:c.1813T>C ENSP00000441417.1:p.Cys605Arg
ENST00000672027.1:c.1813T>C ENSP00000500220.1:p.Cys605Arg
ENST00000672097.1:c.1735T>C ENSP00000500727.1:p.Cys579Arg
ENST00000672761.1:c.1576T>C ENSP00000500108.1:p.Cys526Arg
ENST00000673032.1:c.1576T>C ENSP00000500778.1:p.Cys526Arg
ENST00000381134.7:c.1738T>C ENSP00000370526.3:p.Cys580Arg
ENST00000540563.5:c.1603T>C ENSP00000438198.1:p.Cys535Arg
ENST00000545496.5:c.1813T>C ENSP00000441417.1:p.Cys605Arg
NM_000047.2:c.1738T>C NP_000038.2:p.Cys580Arg
NM_001282628.1:c.1813T>C NP_001269557.1:p.Cys605Arg
NM_001282631.1:c.1603T>C NP_001269560.1:p.Cys535Arg
XM_005274518.2:c.1765T>C XP_005274575.1:p.Cys589Arg
XM_005274519.3:c.1738T>C XP_005274576.1:p.Cys580Arg
XM_005274521.3:c.1576T>C XP_005274578.1:p.Cys526Arg
XM_011545519.1:c.1576T>C XP_011543821.1:p.Cys526Arg
XM_011545520.1:c.1252T>C XP_011543822.1:p.Cys418Arg
XM_011545521.1:c.1177T>C XP_011543823.1:p.Cys393Arg
XM_005274519.4:c.1738T>C XP_005274576.1:p.Cys580Arg
XM_005274521.4:c.1576T>C XP_005274578.1:p.Cys526Arg
XM_017029525.1:c.1813T>C XP_016885014.1:p.Cys605Arg
XM_017029526.1:c.1252T>C XP_016885015.1:p.Cys418Arg
NM_000047.3:c.1738T>C MANE Select NP_000038.2:p.Cys580Arg
NM_001282631.2:c.1576T>C NP_001269560.2:p.Cys526Arg
NM_001369079.1:c.1765T>C NP_001356008.1:p.Cys589Arg
NM_001369080.1:c.1813T>C NP_001356009.1:p.Cys605Arg
NM_001282628.2:c.1813T>C NP_001269557.1:p.Cys605Arg