Canonical Allele Identifier: CA171120

Gene: ARSL

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.2938114C>T , CM000685.2:g.2938114C>T	GRCh38
NC_000023.10:g.2856155C>T , CM000685.1:g.2856155C>T	GRCh37
NC_000023.9:g.2866155C>T	NCBI36
NG_007091.1:g.31157G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000540563.6:c.1270G>A	ENSP00000438198.2:p.Gly424Ser
ENST00000681963.1:c.1345G>A	ENSP00000507760.1:p.Gly449Ser
ENST00000682184.1:c.1147G>A	ENSP00000507043.1:p.Gly383Ser
ENST00000682364.1:c.709G>A	ENSP00000507604.1:p.Gly237Ser
ENST00000683191.1:n.1050G>A
ENST00000683290.1:c.1345G>A	ENSP00000508156.1:p.Gly449Ser
ENST00000683677.1:c.1258G>A	ENSP00000506786.1:p.Gly420Ser
ENST00000683958.1:c.1127-1251G>A	ENSP00000507756.1:n.1127-1251G>A
ENST00000684077.1:c.965-2924G>A	ENSP00000506767.1:n.965-2924G>A
ENST00000684117.1:c.1108G>A	ENSP00000508337.1:p.Gly370Ser
ENST00000684364.1:c.1258G>A	ENSP00000507304.1:p.Gly420Ser
ENST00000684687.1:c.*243G>A	ENSP00000507266.1:n.*243G>A
ENST00000684738.1:c.709G>A	ENSP00000507481.1:p.Gly237Ser
ENST00000381134.9:c.1270G>A MANE Select	ENSP00000370526.3:p.Gly424Ser
ENST00000545496.6:c.1345G>A	ENSP00000441417.1:p.Gly449Ser
ENST00000672027.1:c.1345G>A	ENSP00000500220.1:p.Gly449Ser
ENST00000672097.1:c.1270G>A	ENSP00000500727.1:p.Gly424Ser
ENST00000672761.1:c.1108G>A	ENSP00000500108.1:p.Gly370Ser
ENST00000673032.1:c.1108G>A	ENSP00000500778.1:p.Gly370Ser
ENST00000381134.7:c.1270G>A	ENSP00000370526.3:p.Gly424Ser
ENST00000540563.5:c.1135G>A	ENSP00000438198.1:p.Gly379Ser
ENST00000545496.5:c.1345G>A	ENSP00000441417.1:p.Gly449Ser
NM_000047.2:c.1270G>A	NP_000038.2:p.Gly424Ser
NM_001282628.1:c.1345G>A	NP_001269557.1:p.Gly449Ser
NM_001282631.1:c.1135G>A	NP_001269560.1:p.Gly379Ser
XM_005274518.2:c.1297G>A	XP_005274575.1:p.Gly433Ser
XM_005274519.3:c.1270G>A	XP_005274576.1:p.Gly424Ser
XM_005274521.3:c.1108G>A	XP_005274578.1:p.Gly370Ser
XM_011545519.1:c.1108G>A	XP_011543821.1:p.Gly370Ser
XM_011545520.1:c.784G>A	XP_011543822.1:p.Gly262Ser
XM_011545521.1:c.709G>A	XP_011543823.1:p.Gly237Ser
XM_005274519.4:c.1270G>A	XP_005274576.1:p.Gly424Ser
XM_005274521.4:c.1108G>A	XP_005274578.1:p.Gly370Ser
XM_017029525.1:c.1345G>A	XP_016885014.1:p.Gly449Ser
XM_017029526.1:c.784G>A	XP_016885015.1:p.Gly262Ser
NM_000047.3:c.1270G>A MANE Select	NP_000038.2:p.Gly424Ser
NM_001282631.2:c.1108G>A	NP_001269560.2:p.Gly370Ser
NM_001369079.1:c.1297G>A	NP_001356008.1:p.Gly433Ser
NM_001369080.1:c.1345G>A	NP_001356009.1:p.Gly449Ser
NM_001282628.2:c.1345G>A	NP_001269557.1:p.Gly449Ser