Canonical Allele Identifier: CA10338126

Gene: ARSL

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.2946101G>A , CM000685.2:g.2946101G>A	GRCh38
NC_000023.10:g.2864142G>A , CM000685.1:g.2864142G>A	GRCh37
NC_000023.9:g.2874142G>A	NCBI36
NG_007091.1:g.23170C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000047.3:c.888C>T MANE Select	NP_000038.2:p.Ser296=
ENST00000381134.9:c.888C>T MANE Select	ENSP00000370526.3:p.Ser296=
NM_000047.2:c.888C>T	NP_000038.2:p.Ser296=
NM_001282628.1:c.963C>T	NP_001269557.1:p.Ser321=
NM_001282628.2:c.963C>T	NP_001269557.1:p.Ser321=
NM_001282631.1:c.753C>T	NP_001269560.1:p.Ser251=
NM_001282631.2:c.726C>T	NP_001269560.2:p.Ser242=
NM_001369079.1:c.915C>T	NP_001356008.1:p.Ser305=
NM_001369080.1:c.963C>T	NP_001356009.1:p.Ser321=
ENST00000381134.7:c.888C>T	ENSP00000370526.3:p.Ser296=
ENST00000540563.5:c.753C>T	ENSP00000438198.1:p.Ser251=
ENST00000540563.6:c.888C>T	ENSP00000438198.2:p.Ser296=
ENST00000545496.5:c.963C>T	ENSP00000441417.1:p.Ser321=
ENST00000545496.6:c.963C>T	ENSP00000441417.1:p.Ser321=
ENST00000672027.1:c.963C>T	ENSP00000500220.1:p.Ser321=
ENST00000672097.1:c.888C>T	ENSP00000500727.1:p.Ser296=
ENST00000672606.1:c.431-2902C>T	ENSP00000500638.1:n.431-2902C>T
ENST00000672761.1:c.726C>T	ENSP00000500108.1:p.Ser242=
ENST00000673032.1:c.726C>T	ENSP00000500778.1:p.Ser242=
ENST00000681963.1:c.963C>T	ENSP00000507760.1:p.Ser321=
ENST00000682184.1:c.765C>T	ENSP00000507043.1:p.Ser255=
ENST00000682364.1:c.431-2902C>T	ENSP00000507604.1:n.431-2902C>T
ENST00000683191.1:n.668C>T
ENST00000683290.1:c.963C>T	ENSP00000508156.1:p.Ser321=
ENST00000683677.1:c.876C>T	ENSP00000506786.1:p.Ser292=
ENST00000683958.1:c.888C>T	ENSP00000507756.1:p.Ser296=
ENST00000684077.1:c.726C>T	ENSP00000506767.1:p.Ser242=
ENST00000684117.1:c.726C>T	ENSP00000508337.1:p.Ser242=
ENST00000684364.1:c.876C>T	ENSP00000507304.1:p.Ser292=
ENST00000684687.1:c.726C>T	ENSP00000507266.1:p.Ser242=
ENST00000684738.1:c.431-2902C>T	ENSP00000507481.1:n.431-2902C>T
XM_005274518.2:c.915C>T	XP_005274575.1:p.Ser305=
XM_005274519.3:c.888C>T	XP_005274576.1:p.Ser296=
XM_005274519.4:c.888C>T	XP_005274576.1:p.Ser296=
XM_005274521.3:c.726C>T	XP_005274578.1:p.Ser242=
XM_005274521.4:c.726C>T	XP_005274578.1:p.Ser242=
XM_011545519.1:c.726C>T	XP_011543821.1:p.Ser242=
XM_011545520.1:c.506-2902C>T	XP_011543822.1:n.506-2902C>T
XM_011545521.1:c.431-2902C>T	XP_011543823.1:n.431-2902C>T
XM_017029525.1:c.963C>T	XP_016885014.1:p.Ser321=
XM_017029526.1:c.506-2902C>T	XP_016885015.1:n.506-2902C>T