Canonical Allele Identifier: CA412275151

Gene: ARSL

Linked Data

• gnomAD v4: X-2934889-C-A
• MyVariant Identifiers: chrX:g.2852930C>A (hg19) ; chrX:g.2934889C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.2934889C>A , CM000685.2:g.2934889C>A	GRCh38
NC_000023.10:g.2852930C>A , CM000685.1:g.2852930C>A	GRCh37
NC_000023.9:g.2862930C>A	NCBI36
NG_007091.1:g.34382G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000540563.6:c.1713G>T	ENSP00000438198.2:p.Gln571His
ENST00000681963.1:c.1788G>T	ENSP00000507760.1:p.Gln596His
ENST00000682184.1:c.1590G>T	ENSP00000507043.1:p.Gln530His
ENST00000682364.1:c.1152G>T	ENSP00000507604.1:p.Gln384His
ENST00000683191.1:n.1493G>T
ENST00000683290.1:c.1788G>T	ENSP00000508156.1:p.Gln596His
ENST00000683677.1:c.1701G>T	ENSP00000506786.1:p.Gln567His
ENST00000684077.1:c.1266G>T	ENSP00000506767.1:p.Gln422His
ENST00000684117.1:c.1551G>T	ENSP00000508337.1:p.Gln517His
ENST00000684364.1:c.1701G>T	ENSP00000507304.1:p.Gln567His
ENST00000684738.1:c.1152G>T	ENSP00000507481.1:p.Gln384His
ENST00000381134.9:c.1713G>T MANE Select	ENSP00000370526.3:p.Gln571His
ENST00000545496.6:c.1788G>T	ENSP00000441417.1:p.Gln596His
ENST00000672027.1:c.1788G>T	ENSP00000500220.1:p.Gln596His
ENST00000672097.1:c.1710G>T	ENSP00000500727.1:p.Gln570His
ENST00000672761.1:c.1551G>T	ENSP00000500108.1:p.Gln517His
ENST00000673032.1:c.1551G>T	ENSP00000500778.1:p.Gln517His
ENST00000381134.7:c.1713G>T	ENSP00000370526.3:p.Gln571His
ENST00000540563.5:c.1578G>T	ENSP00000438198.1:p.Gln526His
ENST00000545496.5:c.1788G>T	ENSP00000441417.1:p.Gln596His
NM_000047.2:c.1713G>T	NP_000038.2:p.Gln571His
NM_001282628.1:c.1788G>T	NP_001269557.1:p.Gln596His
NM_001282631.1:c.1578G>T	NP_001269560.1:p.Gln526His
XM_005274518.2:c.1740G>T	XP_005274575.1:p.Gln580His
XM_005274519.3:c.1713G>T	XP_005274576.1:p.Gln571His
XM_005274521.3:c.1551G>T	XP_005274578.1:p.Gln517His
XM_011545519.1:c.1551G>T	XP_011543821.1:p.Gln517His
XM_011545520.1:c.1227G>T	XP_011543822.1:p.Gln409His
XM_011545521.1:c.1152G>T	XP_011543823.1:p.Gln384His
XM_005274519.4:c.1713G>T	XP_005274576.1:p.Gln571His
XM_005274521.4:c.1551G>T	XP_005274578.1:p.Gln517His
XM_017029525.1:c.1788G>T	XP_016885014.1:p.Gln596His
XM_017029526.1:c.1227G>T	XP_016885015.1:p.Gln409His
NM_000047.3:c.1713G>T MANE Select	NP_000038.2:p.Gln571His
NM_001282631.2:c.1551G>T	NP_001269560.2:p.Gln517His
NM_001369079.1:c.1740G>T	NP_001356008.1:p.Gln580His
NM_001369080.1:c.1788G>T	NP_001356009.1:p.Gln596His
NM_001282628.2:c.1788G>T	NP_001269557.1:p.Gln596His