Canonical Allele Identifier: CA412275207
Gene: ARSL HGNC NCBI

Linked Data

gnomAD v4: X-2934914-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.2934914C>A , CM000685.2:g.2934914C>A GRCh38
NC_000023.10:g.2852955C>A , CM000685.1:g.2852955C>A GRCh37
NC_000023.9:g.2862955C>A NCBI36
NG_007091.1:g.34357G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000540563.6:c.1688G>T ENSP00000438198.2:p.Gly563Val
ENST00000681963.1:c.1763G>T ENSP00000507760.1:p.Gly588Val
ENST00000682184.1:c.1565G>T ENSP00000507043.1:p.Gly522Val
ENST00000682364.1:c.1127G>T ENSP00000507604.1:p.Gly376Val
ENST00000683191.1:n.1468G>T
ENST00000683290.1:c.1763G>T ENSP00000508156.1:p.Gly588Val
ENST00000683677.1:c.1676G>T ENSP00000506786.1:p.Gly559Val
ENST00000684077.1:c.1241G>T ENSP00000506767.1:p.Gly414Val
ENST00000684117.1:c.1526G>T ENSP00000508337.1:p.Gly509Val
ENST00000684364.1:c.1676G>T ENSP00000507304.1:p.Gly559Val
ENST00000684738.1:c.1127G>T ENSP00000507481.1:p.Gly376Val
ENST00000381134.9:c.1688G>T MANE Select ENSP00000370526.3:p.Gly563Val
ENST00000545496.6:c.1763G>T ENSP00000441417.1:p.Gly588Val
ENST00000672027.1:c.1763G>T ENSP00000500220.1:p.Gly588Val
ENST00000672097.1:c.1685G>T ENSP00000500727.1:p.Gly562Val
ENST00000672761.1:c.1526G>T ENSP00000500108.1:p.Gly509Val
ENST00000673032.1:c.1526G>T ENSP00000500778.1:p.Gly509Val
ENST00000381134.7:c.1688G>T ENSP00000370526.3:p.Gly563Val
ENST00000540563.5:c.1553G>T ENSP00000438198.1:p.Gly518Val
ENST00000545496.5:c.1763G>T ENSP00000441417.1:p.Gly588Val
NM_000047.2:c.1688G>T NP_000038.2:p.Gly563Val
NM_001282628.1:c.1763G>T NP_001269557.1:p.Gly588Val
NM_001282631.1:c.1553G>T NP_001269560.1:p.Gly518Val
XM_005274518.2:c.1715G>T XP_005274575.1:p.Gly572Val
XM_005274519.3:c.1688G>T XP_005274576.1:p.Gly563Val
XM_005274521.3:c.1526G>T XP_005274578.1:p.Gly509Val
XM_011545519.1:c.1526G>T XP_011543821.1:p.Gly509Val
XM_011545520.1:c.1202G>T XP_011543822.1:p.Gly401Val
XM_011545521.1:c.1127G>T XP_011543823.1:p.Gly376Val
XM_005274519.4:c.1688G>T XP_005274576.1:p.Gly563Val
XM_005274521.4:c.1526G>T XP_005274578.1:p.Gly509Val
XM_017029525.1:c.1763G>T XP_016885014.1:p.Gly588Val
XM_017029526.1:c.1202G>T XP_016885015.1:p.Gly401Val
NM_000047.3:c.1688G>T MANE Select NP_000038.2:p.Gly563Val
NM_001282631.2:c.1526G>T NP_001269560.2:p.Gly509Val
NM_001369079.1:c.1715G>T NP_001356008.1:p.Gly572Val
NM_001369080.1:c.1763G>T NP_001356009.1:p.Gly588Val
NM_001282628.2:c.1763G>T NP_001269557.1:p.Gly588Val