Canonical Allele Identifier: CA199153
Gene: ARSL HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.2953163C>G , CM000685.2:g.2953163C>G GRCh38
NC_000023.10:g.2871204C>G , CM000685.1:g.2871204C>G GRCh37
NC_000023.9:g.2881204C>G NCBI36
NG_007091.1:g.16108G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000483425.2:n.495G>C
ENST00000540563.6:c.410G>C ENSP00000438198.2:p.Gly137Ala
ENST00000681960.1:n.736G>C
ENST00000681963.1:c.485G>C ENSP00000507760.1:p.Gly162Ala
ENST00000682184.1:c.307+2253G>C ENSP00000507043.1:n.307+2253G>C
ENST00000682364.1:c.410G>C ENSP00000507604.1:p.Gly137Ala
ENST00000682745.1:n.495G>C
ENST00000683071.1:n.302G>C
ENST00000683191.1:n.190G>C
ENST00000683290.1:c.485G>C ENSP00000508156.1:p.Gly162Ala
ENST00000683677.1:c.398G>C ENSP00000506786.1:p.Gly133Ala
ENST00000683854.1:n.495G>C
ENST00000683958.1:c.410G>C ENSP00000507756.1:p.Gly137Ala
ENST00000684045.1:n.724G>C
ENST00000684077.1:c.248G>C ENSP00000506767.1:p.Gly83Ala
ENST00000684117.1:c.248G>C ENSP00000508337.1:p.Gly83Ala
ENST00000684364.1:c.398G>C ENSP00000507304.1:p.Gly133Ala
ENST00000684687.1:c.248G>C ENSP00000507266.1:p.Gly83Ala
ENST00000684738.1:c.410G>C ENSP00000507481.1:p.Gly137Ala
ENST00000381134.9:c.410G>C MANE Select ENSP00000370526.3:p.Gly137Ala
ENST00000545496.6:c.485G>C ENSP00000441417.1:p.Gly162Ala
ENST00000672027.1:c.485G>C ENSP00000500220.1:p.Gly162Ala
ENST00000672097.1:c.410G>C ENSP00000500727.1:p.Gly137Ala
ENST00000672606.1:c.410G>C ENSP00000500638.1:p.Gly137Ala
ENST00000672761.1:c.248G>C ENSP00000500108.1:p.Gly83Ala
ENST00000673032.1:c.248G>C ENSP00000500778.1:p.Gly83Ala
ENST00000381134.7:c.410G>C ENSP00000370526.3:p.Gly137Ala
ENST00000438544.5:c.410G>C ENSP00000406528.1:p.Gly137Ala
ENST00000483425.1:n.66G>C
ENST00000540563.5:c.275G>C ENSP00000438198.1:p.Gly92Ala
ENST00000545496.5:c.485G>C ENSP00000441417.1:p.Gly162Ala
NM_000047.2:c.410G>C NP_000038.2:p.Gly137Ala
NM_001282628.1:c.485G>C NP_001269557.1:p.Gly162Ala
NM_001282631.1:c.275G>C NP_001269560.1:p.Gly92Ala
XM_005274518.2:c.437G>C XP_005274575.1:p.Gly146Ala
XM_005274519.3:c.410G>C XP_005274576.1:p.Gly137Ala
XM_005274521.3:c.248G>C XP_005274578.1:p.Gly83Ala
XM_011545519.1:c.248G>C XP_011543821.1:p.Gly83Ala
XM_011545520.1:c.485G>C XP_011543822.1:p.Gly162Ala
XM_011545521.1:c.410G>C XP_011543823.1:p.Gly137Ala
XM_005274519.4:c.410G>C XP_005274576.1:p.Gly137Ala
XM_005274521.4:c.248G>C XP_005274578.1:p.Gly83Ala
XM_017029525.1:c.485G>C XP_016885014.1:p.Gly162Ala
XM_017029526.1:c.485G>C XP_016885015.1:p.Gly162Ala
NM_000047.3:c.410G>C MANE Select NP_000038.2:p.Gly137Ala
NM_001282631.2:c.248G>C NP_001269560.2:p.Gly83Ala
NM_001369079.1:c.437G>C NP_001356008.1:p.Gly146Ala
NM_001369080.1:c.485G>C NP_001356009.1:p.Gly162Ala
NM_001282628.2:c.485G>C NP_001269557.1:p.Gly162Ala