Canonical Allele Identifier: CA412275075
Gene: ARSL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.2934855G>T , CM000685.2:g.2934855G>T GRCh38
NC_000023.10:g.2852896G>T , CM000685.1:g.2852896G>T GRCh37
NC_000023.9:g.2862896G>T NCBI36
NG_007091.1:g.34416C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000540563.6:c.1747C>A ENSP00000438198.2:p.Leu583Ile
ENST00000681963.1:c.1822C>A ENSP00000507760.1:p.Leu608Ile
ENST00000682184.1:c.1624C>A ENSP00000507043.1:p.Leu542Ile
ENST00000682364.1:c.1186C>A ENSP00000507604.1:p.Leu396Ile
ENST00000683191.1:n.1527C>A
ENST00000683290.1:c.1822C>A ENSP00000508156.1:p.Leu608Ile
ENST00000683677.1:c.1735C>A ENSP00000506786.1:p.Leu579Ile
ENST00000684077.1:c.1300C>A ENSP00000506767.1:p.Leu434Ile
ENST00000684117.1:c.1585C>A ENSP00000508337.1:p.Leu529Ile
ENST00000684364.1:c.1735C>A ENSP00000507304.1:p.Leu579Ile
ENST00000684738.1:c.1186C>A ENSP00000507481.1:p.Leu396Ile
ENST00000381134.9:c.1747C>A MANE Select ENSP00000370526.3:p.Leu583Ile
ENST00000545496.6:c.1822C>A ENSP00000441417.1:p.Leu608Ile
ENST00000672027.1:c.1822C>A ENSP00000500220.1:p.Leu608Ile
ENST00000672097.1:c.1744C>A ENSP00000500727.1:p.Leu582Ile
ENST00000672761.1:c.1585C>A ENSP00000500108.1:p.Leu529Ile
ENST00000673032.1:c.1585C>A ENSP00000500778.1:p.Leu529Ile
ENST00000381134.7:c.1747C>A ENSP00000370526.3:p.Leu583Ile
ENST00000540563.5:c.1612C>A ENSP00000438198.1:p.Leu538Ile
ENST00000545496.5:c.1822C>A ENSP00000441417.1:p.Leu608Ile
NM_000047.2:c.1747C>A NP_000038.2:p.Leu583Ile
NM_001282628.1:c.1822C>A NP_001269557.1:p.Leu608Ile
NM_001282631.1:c.1612C>A NP_001269560.1:p.Leu538Ile
XM_005274518.2:c.1774C>A XP_005274575.1:p.Leu592Ile
XM_005274519.3:c.1747C>A XP_005274576.1:p.Leu583Ile
XM_005274521.3:c.1585C>A XP_005274578.1:p.Leu529Ile
XM_011545519.1:c.1585C>A XP_011543821.1:p.Leu529Ile
XM_011545520.1:c.1261C>A XP_011543822.1:p.Leu421Ile
XM_011545521.1:c.1186C>A XP_011543823.1:p.Leu396Ile
XM_005274519.4:c.1747C>A XP_005274576.1:p.Leu583Ile
XM_005274521.4:c.1585C>A XP_005274578.1:p.Leu529Ile
XM_017029525.1:c.1822C>A XP_016885014.1:p.Leu608Ile
XM_017029526.1:c.1261C>A XP_016885015.1:p.Leu421Ile
NM_000047.3:c.1747C>A MANE Select NP_000038.2:p.Leu583Ile
NM_001282631.2:c.1585C>A NP_001269560.2:p.Leu529Ile
NM_001369079.1:c.1774C>A NP_001356008.1:p.Leu592Ile
NM_001369080.1:c.1822C>A NP_001356009.1:p.Leu608Ile
NM_001282628.2:c.1822C>A NP_001269557.1:p.Leu608Ile