Canonical Allele Identifier: CA412267622

Gene: ARSL

Linked Data

• gnomAD v4: X-2953242-G-T
• MyVariant Identifiers: chrX:g.2871283G>T (hg19) ; chrX:g.2953242G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.2953242G>T , CM000685.2:g.2953242G>T	GRCh38
NC_000023.10:g.2871283G>T , CM000685.1:g.2871283G>T	GRCh37
NC_000023.9:g.2881283G>T	NCBI36
NG_007091.1:g.16029C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000483425.2:n.416C>A
ENST00000540563.6:c.331C>A	ENSP00000438198.2:p.Arg111Ser
ENST00000681960.1:n.657C>A
ENST00000681963.1:c.406C>A	ENSP00000507760.1:p.Arg136Ser
ENST00000682184.1:c.307+2174C>A	ENSP00000507043.1:n.307+2174C>A
ENST00000682364.1:c.331C>A	ENSP00000507604.1:p.Arg111Ser
ENST00000682745.1:n.416C>A
ENST00000683071.1:n.223C>A
ENST00000683191.1:n.111C>A
ENST00000683290.1:c.406C>A	ENSP00000508156.1:p.Arg136Ser
ENST00000683677.1:c.319C>A	ENSP00000506786.1:p.Arg107Ser
ENST00000683854.1:n.416C>A
ENST00000683958.1:c.331C>A	ENSP00000507756.1:p.Arg111Ser
ENST00000684045.1:n.645C>A
ENST00000684077.1:c.169C>A	ENSP00000506767.1:p.Arg57Ser
ENST00000684117.1:c.169C>A	ENSP00000508337.1:p.Arg57Ser
ENST00000684364.1:c.319C>A	ENSP00000507304.1:p.Arg107Ser
ENST00000684687.1:c.169C>A	ENSP00000507266.1:p.Arg57Ser
ENST00000684738.1:c.331C>A	ENSP00000507481.1:p.Arg111Ser
ENST00000381134.9:c.331C>A MANE Select	ENSP00000370526.3:p.Arg111Ser
ENST00000545496.6:c.406C>A	ENSP00000441417.1:p.Arg136Ser
ENST00000672027.1:c.406C>A	ENSP00000500220.1:p.Arg136Ser
ENST00000672097.1:c.331C>A	ENSP00000500727.1:p.Arg111Ser
ENST00000672606.1:c.331C>A	ENSP00000500638.1:p.Arg111Ser
ENST00000672761.1:c.169C>A	ENSP00000500108.1:p.Arg57Ser
ENST00000673032.1:c.169C>A	ENSP00000500778.1:p.Arg57Ser
ENST00000381134.7:c.331C>A	ENSP00000370526.3:p.Arg111Ser
ENST00000438544.5:c.331C>A	ENSP00000406528.1:p.Arg111Ser
ENST00000540563.5:c.196C>A	ENSP00000438198.1:p.Arg66Ser
ENST00000545496.5:c.406C>A	ENSP00000441417.1:p.Arg136Ser
NM_000047.2:c.331C>A	NP_000038.2:p.Arg111Ser
NM_001282628.1:c.406C>A	NP_001269557.1:p.Arg136Ser
NM_001282631.1:c.196C>A	NP_001269560.1:p.Arg66Ser
XM_005274518.2:c.358C>A	XP_005274575.1:p.Arg120Ser
XM_005274519.3:c.331C>A	XP_005274576.1:p.Arg111Ser
XM_005274521.3:c.169C>A	XP_005274578.1:p.Arg57Ser
XM_011545519.1:c.169C>A	XP_011543821.1:p.Arg57Ser
XM_011545520.1:c.406C>A	XP_011543822.1:p.Arg136Ser
XM_011545521.1:c.331C>A	XP_011543823.1:p.Arg111Ser
XM_005274519.4:c.331C>A	XP_005274576.1:p.Arg111Ser
XM_005274521.4:c.169C>A	XP_005274578.1:p.Arg57Ser
XM_017029525.1:c.406C>A	XP_016885014.1:p.Arg136Ser
XM_017029526.1:c.406C>A	XP_016885015.1:p.Arg136Ser
NM_000047.3:c.331C>A MANE Select	NP_000038.2:p.Arg111Ser
NM_001282631.2:c.169C>A	NP_001269560.2:p.Arg57Ser
NM_001369079.1:c.358C>A	NP_001356008.1:p.Arg120Ser
NM_001369080.1:c.406C>A	NP_001356009.1:p.Arg136Ser
NM_001282628.2:c.406C>A	NP_001269557.1:p.Arg136Ser