Canonical Allele Identifier: CA412275218
Gene: ARSL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.2934919C>G , CM000685.2:g.2934919C>G GRCh38
NC_000023.10:g.2852960C>G , CM000685.1:g.2852960C>G GRCh37
NC_000023.9:g.2862960C>G NCBI36
NG_007091.1:g.34352G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000540563.6:c.1683G>C ENSP00000438198.2:p.Arg561Ser
ENST00000681963.1:c.1758G>C ENSP00000507760.1:p.Arg586Ser
ENST00000682184.1:c.1560G>C ENSP00000507043.1:p.Arg520Ser
ENST00000682364.1:c.1122G>C ENSP00000507604.1:p.Arg374Ser
ENST00000683191.1:n.1463G>C
ENST00000683290.1:c.1758G>C ENSP00000508156.1:p.Arg586Ser
ENST00000683677.1:c.1671G>C ENSP00000506786.1:p.Arg557Ser
ENST00000684077.1:c.1236G>C ENSP00000506767.1:p.Arg412Ser
ENST00000684117.1:c.1521G>C ENSP00000508337.1:p.Arg507Ser
ENST00000684364.1:c.1671G>C ENSP00000507304.1:p.Arg557Ser
ENST00000684738.1:c.1122G>C ENSP00000507481.1:p.Arg374Ser
ENST00000381134.9:c.1683G>C MANE Select ENSP00000370526.3:p.Arg561Ser
ENST00000545496.6:c.1758G>C ENSP00000441417.1:p.Arg586Ser
ENST00000672027.1:c.1758G>C ENSP00000500220.1:p.Arg586Ser
ENST00000672097.1:c.1680G>C ENSP00000500727.1:p.Arg560Ser
ENST00000672761.1:c.1521G>C ENSP00000500108.1:p.Arg507Ser
ENST00000673032.1:c.1521G>C ENSP00000500778.1:p.Arg507Ser
ENST00000381134.7:c.1683G>C ENSP00000370526.3:p.Arg561Ser
ENST00000540563.5:c.1548G>C ENSP00000438198.1:p.Arg516Ser
ENST00000545496.5:c.1758G>C ENSP00000441417.1:p.Arg586Ser
NM_000047.2:c.1683G>C NP_000038.2:p.Arg561Ser
NM_001282628.1:c.1758G>C NP_001269557.1:p.Arg586Ser
NM_001282631.1:c.1548G>C NP_001269560.1:p.Arg516Ser
XM_005274518.2:c.1710G>C XP_005274575.1:p.Arg570Ser
XM_005274519.3:c.1683G>C XP_005274576.1:p.Arg561Ser
XM_005274521.3:c.1521G>C XP_005274578.1:p.Arg507Ser
XM_011545519.1:c.1521G>C XP_011543821.1:p.Arg507Ser
XM_011545520.1:c.1197G>C XP_011543822.1:p.Arg399Ser
XM_011545521.1:c.1122G>C XP_011543823.1:p.Arg374Ser
XM_005274519.4:c.1683G>C XP_005274576.1:p.Arg561Ser
XM_005274521.4:c.1521G>C XP_005274578.1:p.Arg507Ser
XM_017029525.1:c.1758G>C XP_016885014.1:p.Arg586Ser
XM_017029526.1:c.1197G>C XP_016885015.1:p.Arg399Ser
NM_000047.3:c.1683G>C MANE Select NP_000038.2:p.Arg561Ser
NM_001282631.2:c.1521G>C NP_001269560.2:p.Arg507Ser
NM_001369079.1:c.1710G>C NP_001356008.1:p.Arg570Ser
NM_001369080.1:c.1758G>C NP_001356009.1:p.Arg586Ser
NM_001282628.2:c.1758G>C NP_001269557.1:p.Arg586Ser