Canonical Allele Identifier: CA171130

Gene: ARSL

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.2949610C>T , CM000685.2:g.2949610C>T	GRCh38
NC_000023.10:g.2867651C>T , CM000685.1:g.2867651C>T	GRCh37
NC_000023.9:g.2877651C>T	NCBI36
NG_007091.1:g.19661G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000540563.6:c.548G>A	ENSP00000438198.2:p.Arg183His
ENST00000681963.1:c.623G>A	ENSP00000507760.1:p.Arg208His
ENST00000682184.1:c.425G>A	ENSP00000507043.1:p.Arg142His
ENST00000682364.1:c.430+3533G>A	ENSP00000507604.1:n.430+3533G>A
ENST00000683191.1:n.328G>A
ENST00000683290.1:c.623G>A	ENSP00000508156.1:p.Arg208His
ENST00000683677.1:c.536G>A	ENSP00000506786.1:p.Arg179His
ENST00000683958.1:c.548G>A	ENSP00000507756.1:p.Arg183His
ENST00000684077.1:c.386G>A	ENSP00000506767.1:p.Arg129His
ENST00000684117.1:c.386G>A	ENSP00000508337.1:p.Arg129His
ENST00000684364.1:c.536G>A	ENSP00000507304.1:p.Arg179His
ENST00000684687.1:c.386G>A	ENSP00000507266.1:p.Arg129His
ENST00000684738.1:c.430+3533G>A	ENSP00000507481.1:n.430+3533G>A
ENST00000381134.9:c.548G>A MANE Select	ENSP00000370526.3:p.Arg183His
ENST00000545496.6:c.623G>A	ENSP00000441417.1:p.Arg208His
ENST00000672027.1:c.623G>A	ENSP00000500220.1:p.Arg208His
ENST00000672097.1:c.548G>A	ENSP00000500727.1:p.Arg183His
ENST00000672606.1:c.430+3533G>A	ENSP00000500638.1:n.430+3533G>A
ENST00000672761.1:c.386G>A	ENSP00000500108.1:p.Arg129His
ENST00000673032.1:c.386G>A	ENSP00000500778.1:p.Arg129His
ENST00000381134.7:c.548G>A	ENSP00000370526.3:p.Arg183His
ENST00000540563.5:c.413G>A	ENSP00000438198.1:p.Arg138His
ENST00000545496.5:c.623G>A	ENSP00000441417.1:p.Arg208His
NM_000047.2:c.548G>A	NP_000038.2:p.Arg183His
NM_001282628.1:c.623G>A	NP_001269557.1:p.Arg208His
NM_001282631.1:c.413G>A	NP_001269560.1:p.Arg138His
XM_005274518.2:c.575G>A	XP_005274575.1:p.Arg192His
XM_005274519.3:c.548G>A	XP_005274576.1:p.Arg183His
XM_005274521.3:c.386G>A	XP_005274578.1:p.Arg129His
XM_011545519.1:c.386G>A	XP_011543821.1:p.Arg129His
XM_011545520.1:c.505+3533G>A	XP_011543822.1:n.505+3533G>A
XM_011545521.1:c.430+3533G>A	XP_011543823.1:n.430+3533G>A
XM_005274519.4:c.548G>A	XP_005274576.1:p.Arg183His
XM_005274521.4:c.386G>A	XP_005274578.1:p.Arg129His
XM_017029525.1:c.623G>A	XP_016885014.1:p.Arg208His
XM_017029526.1:c.505+3533G>A	XP_016885015.1:n.505+3533G>A
NM_000047.3:c.548G>A MANE Select	NP_000038.2:p.Arg183His
NM_001282631.2:c.386G>A	NP_001269560.2:p.Arg129His
NM_001369079.1:c.575G>A	NP_001356008.1:p.Arg192His
NM_001369080.1:c.623G>A	NP_001356009.1:p.Arg208His
NM_001282628.2:c.623G>A	NP_001269557.1:p.Arg208His