Canonical Allele Identifier: CA2693017025

Gene: ARSL

Linked Data

• gnomAD v4: X-2952730-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.2952730C>A , CM000685.2:g.2952730C>A	GRCh38
NC_000023.10:g.2870771C>A , CM000685.1:g.2870771C>A	GRCh37
NC_000023.9:g.2880771C>A	NCBI36
NG_007091.1:g.16541G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000483425.2:n.778G>T
ENST00000540563.6:c.430+413G>T	ENSP00000438198.2:n.430+413G>T
ENST00000681960.1:n.757-170G>T
ENST00000681963.1:c.505+413G>T	ENSP00000507760.1:n.505+413G>T
ENST00000682184.1:c.307+2686G>T	ENSP00000507043.1:n.307+2686G>T
ENST00000682364.1:c.430+413G>T	ENSP00000507604.1:n.430+413G>T
ENST00000682745.1:n.516-170G>T
ENST00000683071.1:n.323-170G>T
ENST00000683191.1:n.210+413G>T
ENST00000683290.1:c.505+413G>T	ENSP00000508156.1:n.505+413G>T
ENST00000683677.1:c.418+413G>T	ENSP00000506786.1:n.418+413G>T
ENST00000683854.1:n.928G>T
ENST00000683958.1:c.430+413G>T	ENSP00000507756.1:n.430+413G>T
ENST00000684045.1:n.745-170G>T
ENST00000684077.1:c.268+413G>T	ENSP00000506767.1:n.268+413G>T
ENST00000684117.1:c.268+413G>T	ENSP00000508337.1:n.268+413G>T
ENST00000684364.1:c.418+413G>T	ENSP00000507304.1:n.418+413G>T
ENST00000684687.1:c.268+413G>T	ENSP00000507266.1:n.268+413G>T
ENST00000684738.1:c.430+413G>T	ENSP00000507481.1:n.430+413G>T
ENST00000381134.9:c.430+413G>T MANE Select	ENSP00000370526.3:n.430+413G>T
ENST00000545496.6:c.505+413G>T	ENSP00000441417.1:n.505+413G>T
ENST00000672027.1:c.505+413G>T	ENSP00000500220.1:n.505+413G>T
ENST00000672097.1:c.430+413G>T	ENSP00000500727.1:n.430+413G>T
ENST00000672606.1:c.430+413G>T	ENSP00000500638.1:n.430+413G>T
ENST00000672761.1:c.268+413G>T	ENSP00000500108.1:n.268+413G>T
ENST00000673032.1:c.268+413G>T	ENSP00000500778.1:n.268+413G>T
ENST00000381134.7:c.430+413G>T	ENSP00000370526.3:n.430+413G>T
ENST00000438544.5:c.430+413G>T	ENSP00000406528.1:n.430+413G>T
ENST00000540563.5:c.295+413G>T	ENSP00000438198.1:n.295+413G>T
ENST00000545496.5:c.505+413G>T	ENSP00000441417.1:n.505+413G>T
NM_000047.2:c.430+413G>T	NP_000038.2:n.430+413G>T
NM_001282628.1:c.505+413G>T	NP_001269557.1:n.505+413G>T
NM_001282631.1:c.295+413G>T	NP_001269560.1:n.295+413G>T
XM_005274518.2:c.457+413G>T	XP_005274575.1:n.457+413G>T
XM_005274519.3:c.430+413G>T	XP_005274576.1:n.430+413G>T
XM_005274521.3:c.268+413G>T	XP_005274578.1:n.268+413G>T
XM_011545519.1:c.268+413G>T	XP_011543821.1:n.268+413G>T
XM_011545520.1:c.505+413G>T	XP_011543822.1:n.505+413G>T
XM_011545521.1:c.430+413G>T	XP_011543823.1:n.430+413G>T
XM_005274519.4:c.430+413G>T	XP_005274576.1:n.430+413G>T
XM_005274521.4:c.268+413G>T	XP_005274578.1:n.268+413G>T
XM_017029525.1:c.505+413G>T	XP_016885014.1:n.505+413G>T
XM_017029526.1:c.505+413G>T	XP_016885015.1:n.505+413G>T
NM_000047.3:c.430+413G>T MANE Select	NP_000038.2:n.430+413G>T
NM_001282631.2:c.268+413G>T	NP_001269560.2:n.268+413G>T
NM_001369079.1:c.457+413G>T	NP_001356008.1:n.457+413G>T
NM_001369080.1:c.505+413G>T	NP_001356009.1:n.505+413G>T
NM_001282628.2:c.505+413G>T	NP_001269557.1:n.505+413G>T