Canonical Allele Identifier: CA10338053

Gene: ARSL

Linked Data

• ClinVar Variation Id: 522724
• ClinVar RCV Id: RCV000625879
• dbSNP Id: rs201424543
• ExAC: X:2856236 C / T
• gnomAD v2: X-2856236-C-T
• gnomAD v3: X-2938195-C-T
• gnomAD v4: X-2938195-C-T
• MyVariant Identifiers: chrX:g.2856236C>T (hg19) ; chrX:g.2938195C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.2938195C>T , CM000685.2:g.2938195C>T	GRCh38
NC_000023.10:g.2856236C>T , CM000685.1:g.2856236C>T	GRCh37
NC_000023.9:g.2866236C>T	NCBI36
NG_007091.1:g.31076G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000540563.6:c.1189G>A	ENSP00000438198.2:p.Gly397Arg
ENST00000681963.1:c.1264G>A	ENSP00000507760.1:p.Gly422Arg
ENST00000682184.1:c.1066G>A	ENSP00000507043.1:p.Gly356Arg
ENST00000682364.1:c.628G>A	ENSP00000507604.1:p.Gly210Arg
ENST00000683191.1:n.969G>A
ENST00000683290.1:c.1264G>A	ENSP00000508156.1:p.Gly422Arg
ENST00000683677.1:c.1177G>A	ENSP00000506786.1:p.Gly393Arg
ENST00000683958.1:c.1127-1332G>A	ENSP00000507756.1:n.1127-1332G>A
ENST00000684077.1:c.965-3005G>A	ENSP00000506767.1:n.965-3005G>A
ENST00000684117.1:c.1027G>A	ENSP00000508337.1:p.Gly343Arg
ENST00000684364.1:c.1177G>A	ENSP00000507304.1:p.Gly393Arg
ENST00000684687.1:c.*162G>A	ENSP00000507266.1:n.*162G>A
ENST00000684738.1:c.628G>A	ENSP00000507481.1:p.Gly210Arg
ENST00000381134.9:c.1189G>A MANE Select	ENSP00000370526.3:p.Gly397Arg
ENST00000545496.6:c.1264G>A	ENSP00000441417.1:p.Gly422Arg
ENST00000672027.1:c.1264G>A	ENSP00000500220.1:p.Gly422Arg
ENST00000672097.1:c.1189G>A	ENSP00000500727.1:p.Gly397Arg
ENST00000672761.1:c.1027G>A	ENSP00000500108.1:p.Gly343Arg
ENST00000673032.1:c.1027G>A	ENSP00000500778.1:p.Gly343Arg
ENST00000381134.7:c.1189G>A	ENSP00000370526.3:p.Gly397Arg
ENST00000540563.5:c.1054G>A	ENSP00000438198.1:p.Gly352Arg
ENST00000545496.5:c.1264G>A	ENSP00000441417.1:p.Gly422Arg
NM_000047.2:c.1189G>A	NP_000038.2:p.Gly397Arg
NM_001282628.1:c.1264G>A	NP_001269557.1:p.Gly422Arg
NM_001282631.1:c.1054G>A	NP_001269560.1:p.Gly352Arg
XM_005274518.2:c.1216G>A	XP_005274575.1:p.Gly406Arg
XM_005274519.3:c.1189G>A	XP_005274576.1:p.Gly397Arg
XM_005274521.3:c.1027G>A	XP_005274578.1:p.Gly343Arg
XM_011545519.1:c.1027G>A	XP_011543821.1:p.Gly343Arg
XM_011545520.1:c.703G>A	XP_011543822.1:p.Gly235Arg
XM_011545521.1:c.628G>A	XP_011543823.1:p.Gly210Arg
XM_005274519.4:c.1189G>A	XP_005274576.1:p.Gly397Arg
XM_005274521.4:c.1027G>A	XP_005274578.1:p.Gly343Arg
XM_017029525.1:c.1264G>A	XP_016885014.1:p.Gly422Arg
XM_017029526.1:c.703G>A	XP_016885015.1:p.Gly235Arg
NM_000047.3:c.1189G>A MANE Select	NP_000038.2:p.Gly397Arg
NM_001282631.2:c.1027G>A	NP_001269560.2:p.Gly343Arg
NM_001369079.1:c.1216G>A	NP_001356008.1:p.Gly406Arg
NM_001369080.1:c.1264G>A	NP_001356009.1:p.Gly422Arg
NM_001282628.2:c.1264G>A	NP_001269557.1:p.Gly422Arg