Canonical Allele Identifier: CA270983
Gene: ARSL HGNC NCBI

Linked Data

ClinVar Variation Id: 157732
dbSNP Id: rs145946864
gnomAD v2: X-2871277-G-A
gnomAD v3: X-2953236-G-A
gnomAD v4: X-2953236-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.2953236G>A , CM000685.2:g.2953236G>A GRCh38
NC_000023.10:g.2871277G>A , CM000685.1:g.2871277G>A GRCh37
NC_000023.9:g.2881277G>A NCBI36
NG_007091.1:g.16035C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000483425.2:n.422C>T
ENST00000540563.6:c.337C>T ENSP00000438198.2:p.Leu113Phe
ENST00000681960.1:n.663C>T
ENST00000681963.1:c.412C>T ENSP00000507760.1:p.Leu138Phe
ENST00000682184.1:c.307+2180C>T ENSP00000507043.1:n.307+2180C>T
ENST00000682364.1:c.337C>T ENSP00000507604.1:p.Leu113Phe
ENST00000682745.1:n.422C>T
ENST00000683071.1:n.229C>T
ENST00000683191.1:n.117C>T
ENST00000683290.1:c.412C>T ENSP00000508156.1:p.Leu138Phe
ENST00000683677.1:c.325C>T ENSP00000506786.1:p.Leu109Phe
ENST00000683854.1:n.422C>T
ENST00000683958.1:c.337C>T ENSP00000507756.1:p.Leu113Phe
ENST00000684045.1:n.651C>T
ENST00000684077.1:c.175C>T ENSP00000506767.1:p.Leu59Phe
ENST00000684117.1:c.175C>T ENSP00000508337.1:p.Leu59Phe
ENST00000684364.1:c.325C>T ENSP00000507304.1:p.Leu109Phe
ENST00000684687.1:c.175C>T ENSP00000507266.1:p.Leu59Phe
ENST00000684738.1:c.337C>T ENSP00000507481.1:p.Leu113Phe
ENST00000381134.9:c.337C>T MANE Select ENSP00000370526.3:p.Leu113Phe
ENST00000545496.6:c.412C>T ENSP00000441417.1:p.Leu138Phe
ENST00000672027.1:c.412C>T ENSP00000500220.1:p.Leu138Phe
ENST00000672097.1:c.337C>T ENSP00000500727.1:p.Leu113Phe
ENST00000672606.1:c.337C>T ENSP00000500638.1:p.Leu113Phe
ENST00000672761.1:c.175C>T ENSP00000500108.1:p.Leu59Phe
ENST00000673032.1:c.175C>T ENSP00000500778.1:p.Leu59Phe
ENST00000381134.7:c.337C>T ENSP00000370526.3:p.Leu113Phe
ENST00000438544.5:c.337C>T ENSP00000406528.1:p.Leu113Phe
ENST00000540563.5:c.202C>T ENSP00000438198.1:p.Leu68Phe
ENST00000545496.5:c.412C>T ENSP00000441417.1:p.Leu138Phe
NM_000047.2:c.337C>T NP_000038.2:p.Leu113Phe
NM_001282628.1:c.412C>T NP_001269557.1:p.Leu138Phe
NM_001282631.1:c.202C>T NP_001269560.1:p.Leu68Phe
XM_005274518.2:c.364C>T XP_005274575.1:p.Leu122Phe
XM_005274519.3:c.337C>T XP_005274576.1:p.Leu113Phe
XM_005274521.3:c.175C>T XP_005274578.1:p.Leu59Phe
XM_011545519.1:c.175C>T XP_011543821.1:p.Leu59Phe
XM_011545520.1:c.412C>T XP_011543822.1:p.Leu138Phe
XM_011545521.1:c.337C>T XP_011543823.1:p.Leu113Phe
XM_005274519.4:c.337C>T XP_005274576.1:p.Leu113Phe
XM_005274521.4:c.175C>T XP_005274578.1:p.Leu59Phe
XM_017029525.1:c.412C>T XP_016885014.1:p.Leu138Phe
XM_017029526.1:c.412C>T XP_016885015.1:p.Leu138Phe
NM_000047.3:c.337C>T MANE Select NP_000038.2:p.Leu113Phe
NM_001282631.2:c.175C>T NP_001269560.2:p.Leu59Phe
NM_001369079.1:c.364C>T NP_001356008.1:p.Leu122Phe
NM_001369080.1:c.412C>T NP_001356009.1:p.Leu138Phe
NM_001282628.2:c.412C>T NP_001269557.1:p.Leu138Phe