Canonical Allele Identifier: CA412275149
Gene: ARSL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.2934888G>C , CM000685.2:g.2934888G>C GRCh38
NC_000023.10:g.2852929G>C , CM000685.1:g.2852929G>C GRCh37
NC_000023.9:g.2862929G>C NCBI36
NG_007091.1:g.34383C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000540563.6:c.1714C>G ENSP00000438198.2:p.Pro572Ala
ENST00000681963.1:c.1789C>G ENSP00000507760.1:p.Pro597Ala
ENST00000682184.1:c.1591C>G ENSP00000507043.1:p.Pro531Ala
ENST00000682364.1:c.1153C>G ENSP00000507604.1:p.Pro385Ala
ENST00000683191.1:n.1494C>G
ENST00000683290.1:c.1789C>G ENSP00000508156.1:p.Pro597Ala
ENST00000683677.1:c.1702C>G ENSP00000506786.1:p.Pro568Ala
ENST00000684077.1:c.1267C>G ENSP00000506767.1:p.Pro423Ala
ENST00000684117.1:c.1552C>G ENSP00000508337.1:p.Pro518Ala
ENST00000684364.1:c.1702C>G ENSP00000507304.1:p.Pro568Ala
ENST00000684738.1:c.1153C>G ENSP00000507481.1:p.Pro385Ala
ENST00000381134.9:c.1714C>G MANE Select ENSP00000370526.3:p.Pro572Ala
ENST00000545496.6:c.1789C>G ENSP00000441417.1:p.Pro597Ala
ENST00000672027.1:c.1789C>G ENSP00000500220.1:p.Pro597Ala
ENST00000672097.1:c.1711C>G ENSP00000500727.1:p.Pro571Ala
ENST00000672761.1:c.1552C>G ENSP00000500108.1:p.Pro518Ala
ENST00000673032.1:c.1552C>G ENSP00000500778.1:p.Pro518Ala
ENST00000381134.7:c.1714C>G ENSP00000370526.3:p.Pro572Ala
ENST00000540563.5:c.1579C>G ENSP00000438198.1:p.Pro527Ala
ENST00000545496.5:c.1789C>G ENSP00000441417.1:p.Pro597Ala
NM_000047.2:c.1714C>G NP_000038.2:p.Pro572Ala
NM_001282628.1:c.1789C>G NP_001269557.1:p.Pro597Ala
NM_001282631.1:c.1579C>G NP_001269560.1:p.Pro527Ala
XM_005274518.2:c.1741C>G XP_005274575.1:p.Pro581Ala
XM_005274519.3:c.1714C>G XP_005274576.1:p.Pro572Ala
XM_005274521.3:c.1552C>G XP_005274578.1:p.Pro518Ala
XM_011545519.1:c.1552C>G XP_011543821.1:p.Pro518Ala
XM_011545520.1:c.1228C>G XP_011543822.1:p.Pro410Ala
XM_011545521.1:c.1153C>G XP_011543823.1:p.Pro385Ala
XM_005274519.4:c.1714C>G XP_005274576.1:p.Pro572Ala
XM_005274521.4:c.1552C>G XP_005274578.1:p.Pro518Ala
XM_017029525.1:c.1789C>G XP_016885014.1:p.Pro597Ala
XM_017029526.1:c.1228C>G XP_016885015.1:p.Pro410Ala
NM_000047.3:c.1714C>G MANE Select NP_000038.2:p.Pro572Ala
NM_001282631.2:c.1552C>G NP_001269560.2:p.Pro518Ala
NM_001369079.1:c.1741C>G NP_001356008.1:p.Pro581Ala
NM_001369080.1:c.1789C>G NP_001356009.1:p.Pro597Ala
NM_001282628.2:c.1789C>G NP_001269557.1:p.Pro597Ala