Canonical Allele Identifier: CA10338125
Gene: ARSL HGNC NCBI
ClinVar Variation:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.2946092G>A , CM000685.2:g.2946092G>A GRCh38
NC_000023.10:g.2864133G>A , CM000685.1:g.2864133G>A GRCh37
NC_000023.9:g.2874133G>A NCBI36
NG_007091.1:g.23179C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000540563.6:c.897C>T ENSP00000438198.2:p.His299=
ENST00000681963.1:c.972C>T ENSP00000507760.1:p.His324=
ENST00000682184.1:c.774C>T ENSP00000507043.1:p.His258=
ENST00000682364.1:c.431-2893C>T ENSP00000507604.1:n.431-2893C>T
ENST00000683191.1:n.677C>T
ENST00000683290.1:c.972C>T ENSP00000508156.1:p.His324=
ENST00000683677.1:c.885C>T ENSP00000506786.1:p.His295=
ENST00000683958.1:c.897C>T ENSP00000507756.1:p.His299=
ENST00000684077.1:c.735C>T ENSP00000506767.1:p.His245=
ENST00000684117.1:c.735C>T ENSP00000508337.1:p.His245=
ENST00000684364.1:c.885C>T ENSP00000507304.1:p.His295=
ENST00000684687.1:c.735C>T ENSP00000507266.1:p.His245=
ENST00000684738.1:c.431-2893C>T ENSP00000507481.1:n.431-2893C>T
ENST00000381134.9:c.897C>T MANE Select ENSP00000370526.3:p.His299=
ENST00000545496.6:c.972C>T ENSP00000441417.1:p.His324=
ENST00000672027.1:c.972C>T ENSP00000500220.1:p.His324=
ENST00000672097.1:c.897C>T ENSP00000500727.1:p.His299=
ENST00000672606.1:c.431-2893C>T ENSP00000500638.1:n.431-2893C>T
ENST00000672761.1:c.735C>T ENSP00000500108.1:p.His245=
ENST00000673032.1:c.735C>T ENSP00000500778.1:p.His245=
ENST00000381134.7:c.897C>T ENSP00000370526.3:p.His299=
ENST00000540563.5:c.762C>T ENSP00000438198.1:p.His254=
ENST00000545496.5:c.972C>T ENSP00000441417.1:p.His324=
NM_000047.2:c.897C>T NP_000038.2:p.His299=
NM_001282628.1:c.972C>T NP_001269557.1:p.His324=
NM_001282631.1:c.762C>T NP_001269560.1:p.His254=
XM_005274518.2:c.924C>T XP_005274575.1:p.His308=
XM_005274519.3:c.897C>T XP_005274576.1:p.His299=
XM_005274521.3:c.735C>T XP_005274578.1:p.His245=
XM_011545519.1:c.735C>T XP_011543821.1:p.His245=
XM_011545520.1:c.506-2893C>T XP_011543822.1:n.506-2893C>T
XM_011545521.1:c.431-2893C>T XP_011543823.1:n.431-2893C>T
XM_005274519.4:c.897C>T XP_005274576.1:p.His299=
XM_005274521.4:c.735C>T XP_005274578.1:p.His245=
XM_017029525.1:c.972C>T XP_016885014.1:p.His324=
XM_017029526.1:c.506-2893C>T XP_016885015.1:n.506-2893C>T
NM_000047.3:c.897C>T MANE Select NP_000038.2:p.His299=
NM_001282631.2:c.735C>T NP_001269560.2:p.His245=
NM_001369079.1:c.924C>T NP_001356008.1:p.His308=
NM_001369080.1:c.972C>T NP_001356009.1:p.His324=
NM_001282628.2:c.972C>T NP_001269557.1:p.His324=