Canonical Allele Identifier: CA412275365
Gene: ARSL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.2934986T>A , CM000685.2:g.2934986T>A GRCh38
NC_000023.10:g.2853027T>A , CM000685.1:g.2853027T>A GRCh37
NC_000023.9:g.2863027T>A NCBI36
NG_007091.1:g.34285A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000540563.6:c.1616A>T ENSP00000438198.2:p.Glu539Val
ENST00000681963.1:c.1691A>T ENSP00000507760.1:p.Glu564Val
ENST00000682184.1:c.1493A>T ENSP00000507043.1:p.Glu498Val
ENST00000682364.1:c.1055A>T ENSP00000507604.1:p.Glu352Val
ENST00000683191.1:n.1396A>T
ENST00000683290.1:c.1691A>T ENSP00000508156.1:p.Glu564Val
ENST00000683677.1:c.1604A>T ENSP00000506786.1:p.Glu535Val
ENST00000684077.1:c.1169A>T ENSP00000506767.1:p.Glu390Val
ENST00000684117.1:c.1454A>T ENSP00000508337.1:p.Glu485Val
ENST00000684364.1:c.1604A>T ENSP00000507304.1:p.Glu535Val
ENST00000684738.1:c.1055A>T ENSP00000507481.1:p.Glu352Val
ENST00000381134.9:c.1616A>T MANE Select ENSP00000370526.3:p.Glu539Val
ENST00000545496.6:c.1691A>T ENSP00000441417.1:p.Glu564Val
ENST00000672027.1:c.1691A>T ENSP00000500220.1:p.Glu564Val
ENST00000672097.1:c.1613A>T ENSP00000500727.1:p.Glu538Val
ENST00000672761.1:c.1454A>T ENSP00000500108.1:p.Glu485Val
ENST00000673032.1:c.1454A>T ENSP00000500778.1:p.Glu485Val
ENST00000381134.7:c.1616A>T ENSP00000370526.3:p.Glu539Val
ENST00000540563.5:c.1481A>T ENSP00000438198.1:p.Glu494Val
ENST00000545496.5:c.1691A>T ENSP00000441417.1:p.Glu564Val
NM_000047.2:c.1616A>T NP_000038.2:p.Glu539Val
NM_001282628.1:c.1691A>T NP_001269557.1:p.Glu564Val
NM_001282631.1:c.1481A>T NP_001269560.1:p.Glu494Val
XM_005274518.2:c.1643A>T XP_005274575.1:p.Glu548Val
XM_005274519.3:c.1616A>T XP_005274576.1:p.Glu539Val
XM_005274521.3:c.1454A>T XP_005274578.1:p.Glu485Val
XM_011545519.1:c.1454A>T XP_011543821.1:p.Glu485Val
XM_011545520.1:c.1130A>T XP_011543822.1:p.Glu377Val
XM_011545521.1:c.1055A>T XP_011543823.1:p.Glu352Val
XM_005274519.4:c.1616A>T XP_005274576.1:p.Glu539Val
XM_005274521.4:c.1454A>T XP_005274578.1:p.Glu485Val
XM_017029525.1:c.1691A>T XP_016885014.1:p.Glu564Val
XM_017029526.1:c.1130A>T XP_016885015.1:p.Glu377Val
NM_000047.3:c.1616A>T MANE Select NP_000038.2:p.Glu539Val
NM_001282631.2:c.1454A>T NP_001269560.2:p.Glu485Val
NM_001369079.1:c.1643A>T NP_001356008.1:p.Glu548Val
NM_001369080.1:c.1691A>T NP_001356009.1:p.Glu564Val
NM_001282628.2:c.1691A>T NP_001269557.1:p.Glu564Val