Canonical Allele Identifier: CA412275438

Gene: ARSL

Linked Data

• MyVariant Identifiers: chrX:g.2853043A>T (hg19) ; chrX:g.2935002A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.2935002A>T , CM000685.2:g.2935002A>T	GRCh38
NC_000023.10:g.2853043A>T , CM000685.1:g.2853043A>T	GRCh37
NC_000023.9:g.2863043A>T	NCBI36
NG_007091.1:g.34269T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000540563.6:c.1600T>A	ENSP00000438198.2:p.Phe534Ile
ENST00000681963.1:c.1675T>A	ENSP00000507760.1:p.Phe559Ile
ENST00000682184.1:c.1477T>A	ENSP00000507043.1:p.Phe493Ile
ENST00000682364.1:c.1039T>A	ENSP00000507604.1:p.Phe347Ile
ENST00000683191.1:n.1380T>A
ENST00000683290.1:c.1675T>A	ENSP00000508156.1:p.Phe559Ile
ENST00000683677.1:c.1588T>A	ENSP00000506786.1:p.Phe530Ile
ENST00000684077.1:c.1153T>A	ENSP00000506767.1:p.Phe385Ile
ENST00000684117.1:c.1438T>A	ENSP00000508337.1:p.Phe480Ile
ENST00000684364.1:c.1588T>A	ENSP00000507304.1:p.Phe530Ile
ENST00000684738.1:c.1039T>A	ENSP00000507481.1:p.Phe347Ile
ENST00000381134.9:c.1600T>A MANE Select	ENSP00000370526.3:p.Phe534Ile
ENST00000545496.6:c.1675T>A	ENSP00000441417.1:p.Phe559Ile
ENST00000672027.1:c.1675T>A	ENSP00000500220.1:p.Phe559Ile
ENST00000672097.1:c.1597T>A	ENSP00000500727.1:p.Phe533Ile
ENST00000672761.1:c.1438T>A	ENSP00000500108.1:p.Phe480Ile
ENST00000673032.1:c.1438T>A	ENSP00000500778.1:p.Phe480Ile
ENST00000381134.7:c.1600T>A	ENSP00000370526.3:p.Phe534Ile
ENST00000540563.5:c.1465T>A	ENSP00000438198.1:p.Phe489Ile
ENST00000545496.5:c.1675T>A	ENSP00000441417.1:p.Phe559Ile
NM_000047.2:c.1600T>A	NP_000038.2:p.Phe534Ile
NM_001282628.1:c.1675T>A	NP_001269557.1:p.Phe559Ile
NM_001282631.1:c.1465T>A	NP_001269560.1:p.Phe489Ile
XM_005274518.2:c.1627T>A	XP_005274575.1:p.Phe543Ile
XM_005274519.3:c.1600T>A	XP_005274576.1:p.Phe534Ile
XM_005274521.3:c.1438T>A	XP_005274578.1:p.Phe480Ile
XM_011545519.1:c.1438T>A	XP_011543821.1:p.Phe480Ile
XM_011545520.1:c.1114T>A	XP_011543822.1:p.Phe372Ile
XM_011545521.1:c.1039T>A	XP_011543823.1:p.Phe347Ile
XM_005274519.4:c.1600T>A	XP_005274576.1:p.Phe534Ile
XM_005274521.4:c.1438T>A	XP_005274578.1:p.Phe480Ile
XM_017029525.1:c.1675T>A	XP_016885014.1:p.Phe559Ile
XM_017029526.1:c.1114T>A	XP_016885015.1:p.Phe372Ile
NM_000047.3:c.1600T>A MANE Select	NP_000038.2:p.Phe534Ile
NM_001282631.2:c.1438T>A	NP_001269560.2:p.Phe480Ile
NM_001369079.1:c.1627T>A	NP_001356008.1:p.Phe543Ile
NM_001369080.1:c.1675T>A	NP_001356009.1:p.Phe559Ile
NM_001282628.2:c.1675T>A	NP_001269557.1:p.Phe559Ile