Canonical Allele Identifier: CA10338210

Gene: ARSL

Linked Data

• dbSNP Id: rs138557520
• ExAC: X:2871290 A / G
• gnomAD v2: X-2871290-A-G
• gnomAD v4: X-2953249-A-G
• MyVariant Identifiers: chrX:g.2871290A>G (hg19) ; chrX:g.2953249A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.2953249A>G , CM000685.2:g.2953249A>G	GRCh38
NC_000023.10:g.2871290A>G , CM000685.1:g.2871290A>G	GRCh37
NC_000023.9:g.2881290A>G	NCBI36
NG_007091.1:g.16022T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000483425.2:n.409T>C
ENST00000540563.6:c.324T>C	ENSP00000438198.2:p.Ile108=
ENST00000681960.1:n.650T>C
ENST00000681963.1:c.399T>C	ENSP00000507760.1:p.Ile133=
ENST00000682184.1:c.307+2167T>C	ENSP00000507043.1:n.307+2167T>C
ENST00000682364.1:c.324T>C	ENSP00000507604.1:p.Ile108=
ENST00000682745.1:n.409T>C
ENST00000683071.1:n.216T>C
ENST00000683191.1:n.104T>C
ENST00000683290.1:c.399T>C	ENSP00000508156.1:p.Ile133=
ENST00000683677.1:c.312T>C	ENSP00000506786.1:p.Ile104=
ENST00000683854.1:n.409T>C
ENST00000683958.1:c.324T>C	ENSP00000507756.1:p.Ile108=
ENST00000684045.1:n.638T>C
ENST00000684077.1:c.162T>C	ENSP00000506767.1:p.Ile54=
ENST00000684117.1:c.162T>C	ENSP00000508337.1:p.Ile54=
ENST00000684364.1:c.312T>C	ENSP00000507304.1:p.Ile104=
ENST00000684687.1:c.162T>C	ENSP00000507266.1:p.Ile54=
ENST00000684738.1:c.324T>C	ENSP00000507481.1:p.Ile108=
ENST00000381134.9:c.324T>C MANE Select	ENSP00000370526.3:p.Ile108=
ENST00000545496.6:c.399T>C	ENSP00000441417.1:p.Ile133=
ENST00000672027.1:c.399T>C	ENSP00000500220.1:p.Ile133=
ENST00000672097.1:c.324T>C	ENSP00000500727.1:p.Ile108=
ENST00000672606.1:c.324T>C	ENSP00000500638.1:p.Ile108=
ENST00000672761.1:c.162T>C	ENSP00000500108.1:p.Ile54=
ENST00000673032.1:c.162T>C	ENSP00000500778.1:p.Ile54=
ENST00000381134.7:c.324T>C	ENSP00000370526.3:p.Ile108=
ENST00000438544.5:c.324T>C	ENSP00000406528.1:p.Ile108=
ENST00000540563.5:c.189T>C	ENSP00000438198.1:p.Ile63=
ENST00000545496.5:c.399T>C	ENSP00000441417.1:p.Ile133=
NM_000047.2:c.324T>C	NP_000038.2:p.Ile108=
NM_001282628.1:c.399T>C	NP_001269557.1:p.Ile133=
NM_001282631.1:c.189T>C	NP_001269560.1:p.Ile63=
XM_005274518.2:c.351T>C	XP_005274575.1:p.Ile117=
XM_005274519.3:c.324T>C	XP_005274576.1:p.Ile108=
XM_005274521.3:c.162T>C	XP_005274578.1:p.Ile54=
XM_011545519.1:c.162T>C	XP_011543821.1:p.Ile54=
XM_011545520.1:c.399T>C	XP_011543822.1:p.Ile133=
XM_011545521.1:c.324T>C	XP_011543823.1:p.Ile108=
XM_005274519.4:c.324T>C	XP_005274576.1:p.Ile108=
XM_005274521.4:c.162T>C	XP_005274578.1:p.Ile54=
XM_017029525.1:c.399T>C	XP_016885014.1:p.Ile133=
XM_017029526.1:c.399T>C	XP_016885015.1:p.Ile133=
NM_000047.3:c.324T>C MANE Select	NP_000038.2:p.Ile108=
NM_001282631.2:c.162T>C	NP_001269560.2:p.Ile54=
NM_001369079.1:c.351T>C	NP_001356008.1:p.Ile117=
NM_001369080.1:c.399T>C	NP_001356009.1:p.Ile133=
NM_001282628.2:c.399T>C	NP_001269557.1:p.Ile133=