Canonical Allele Identifier: CA412275359

Gene: ARSL

Linked Data

• dbSNP Id: rs1335931206
• gnomAD v2: X-2853025-G-C
• gnomAD v4: X-2934984-G-C
• MyVariant Identifiers: chrX:g.2853025G>C (hg19) ; chrX:g.2934984G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.2934984G>C , CM000685.2:g.2934984G>C	GRCh38
NC_000023.10:g.2853025G>C , CM000685.1:g.2853025G>C	GRCh37
NC_000023.9:g.2863025G>C	NCBI36
NG_007091.1:g.34287C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000540563.6:c.1618C>G	ENSP00000438198.2:p.Arg540Gly
ENST00000681963.1:c.1693C>G	ENSP00000507760.1:p.Arg565Gly
ENST00000682184.1:c.1495C>G	ENSP00000507043.1:p.Arg499Gly
ENST00000682364.1:c.1057C>G	ENSP00000507604.1:p.Arg353Gly
ENST00000683191.1:n.1398C>G
ENST00000683290.1:c.1693C>G	ENSP00000508156.1:p.Arg565Gly
ENST00000683677.1:c.1606C>G	ENSP00000506786.1:p.Arg536Gly
ENST00000684077.1:c.1171C>G	ENSP00000506767.1:p.Arg391Gly
ENST00000684117.1:c.1456C>G	ENSP00000508337.1:p.Arg486Gly
ENST00000684364.1:c.1606C>G	ENSP00000507304.1:p.Arg536Gly
ENST00000684738.1:c.1057C>G	ENSP00000507481.1:p.Arg353Gly
ENST00000381134.9:c.1618C>G MANE Select	ENSP00000370526.3:p.Arg540Gly
ENST00000545496.6:c.1693C>G	ENSP00000441417.1:p.Arg565Gly
ENST00000672027.1:c.1693C>G	ENSP00000500220.1:p.Arg565Gly
ENST00000672097.1:c.1615C>G	ENSP00000500727.1:p.Arg539Gly
ENST00000672761.1:c.1456C>G	ENSP00000500108.1:p.Arg486Gly
ENST00000673032.1:c.1456C>G	ENSP00000500778.1:p.Arg486Gly
ENST00000381134.7:c.1618C>G	ENSP00000370526.3:p.Arg540Gly
ENST00000540563.5:c.1483C>G	ENSP00000438198.1:p.Arg495Gly
ENST00000545496.5:c.1693C>G	ENSP00000441417.1:p.Arg565Gly
NM_000047.2:c.1618C>G	NP_000038.2:p.Arg540Gly
NM_001282628.1:c.1693C>G	NP_001269557.1:p.Arg565Gly
NM_001282631.1:c.1483C>G	NP_001269560.1:p.Arg495Gly
XM_005274518.2:c.1645C>G	XP_005274575.1:p.Arg549Gly
XM_005274519.3:c.1618C>G	XP_005274576.1:p.Arg540Gly
XM_005274521.3:c.1456C>G	XP_005274578.1:p.Arg486Gly
XM_011545519.1:c.1456C>G	XP_011543821.1:p.Arg486Gly
XM_011545520.1:c.1132C>G	XP_011543822.1:p.Arg378Gly
XM_011545521.1:c.1057C>G	XP_011543823.1:p.Arg353Gly
XM_005274519.4:c.1618C>G	XP_005274576.1:p.Arg540Gly
XM_005274521.4:c.1456C>G	XP_005274578.1:p.Arg486Gly
XM_017029525.1:c.1693C>G	XP_016885014.1:p.Arg565Gly
XM_017029526.1:c.1132C>G	XP_016885015.1:p.Arg378Gly
NM_000047.3:c.1618C>G MANE Select	NP_000038.2:p.Arg540Gly
NM_001282631.2:c.1456C>G	NP_001269560.2:p.Arg486Gly
NM_001369079.1:c.1645C>G	NP_001356008.1:p.Arg549Gly
NM_001369080.1:c.1693C>G	NP_001356009.1:p.Arg565Gly
NM_001282628.2:c.1693C>G	NP_001269557.1:p.Arg565Gly