Canonical Allele Identifier: CA412275122

Gene: ARSL

Linked Data

• gnomAD v4: X-2934876-G-A
• MyVariant Identifiers: chrX:g.2852917G>A (hg19) ; chrX:g.2934876G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.2934876G>A , CM000685.2:g.2934876G>A	GRCh38
NC_000023.10:g.2852917G>A , CM000685.1:g.2852917G>A	GRCh37
NC_000023.9:g.2862917G>A	NCBI36
NG_007091.1:g.34395C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000540563.6:c.1726C>T	ENSP00000438198.2:p.Pro576Ser
ENST00000681963.1:c.1801C>T	ENSP00000507760.1:p.Pro601Ser
ENST00000682184.1:c.1603C>T	ENSP00000507043.1:p.Pro535Ser
ENST00000682364.1:c.1165C>T	ENSP00000507604.1:p.Pro389Ser
ENST00000683191.1:n.1506C>T
ENST00000683290.1:c.1801C>T	ENSP00000508156.1:p.Pro601Ser
ENST00000683677.1:c.1714C>T	ENSP00000506786.1:p.Pro572Ser
ENST00000684077.1:c.1279C>T	ENSP00000506767.1:p.Pro427Ser
ENST00000684117.1:c.1564C>T	ENSP00000508337.1:p.Pro522Ser
ENST00000684364.1:c.1714C>T	ENSP00000507304.1:p.Pro572Ser
ENST00000684738.1:c.1165C>T	ENSP00000507481.1:p.Pro389Ser
ENST00000381134.9:c.1726C>T MANE Select	ENSP00000370526.3:p.Pro576Ser
ENST00000545496.6:c.1801C>T	ENSP00000441417.1:p.Pro601Ser
ENST00000672027.1:c.1801C>T	ENSP00000500220.1:p.Pro601Ser
ENST00000672097.1:c.1723C>T	ENSP00000500727.1:p.Pro575Ser
ENST00000672761.1:c.1564C>T	ENSP00000500108.1:p.Pro522Ser
ENST00000673032.1:c.1564C>T	ENSP00000500778.1:p.Pro522Ser
ENST00000381134.7:c.1726C>T	ENSP00000370526.3:p.Pro576Ser
ENST00000540563.5:c.1591C>T	ENSP00000438198.1:p.Pro531Ser
ENST00000545496.5:c.1801C>T	ENSP00000441417.1:p.Pro601Ser
NM_000047.2:c.1726C>T	NP_000038.2:p.Pro576Ser
NM_001282628.1:c.1801C>T	NP_001269557.1:p.Pro601Ser
NM_001282631.1:c.1591C>T	NP_001269560.1:p.Pro531Ser
XM_005274518.2:c.1753C>T	XP_005274575.1:p.Pro585Ser
XM_005274519.3:c.1726C>T	XP_005274576.1:p.Pro576Ser
XM_005274521.3:c.1564C>T	XP_005274578.1:p.Pro522Ser
XM_011545519.1:c.1564C>T	XP_011543821.1:p.Pro522Ser
XM_011545520.1:c.1240C>T	XP_011543822.1:p.Pro414Ser
XM_011545521.1:c.1165C>T	XP_011543823.1:p.Pro389Ser
XM_005274519.4:c.1726C>T	XP_005274576.1:p.Pro576Ser
XM_005274521.4:c.1564C>T	XP_005274578.1:p.Pro522Ser
XM_017029525.1:c.1801C>T	XP_016885014.1:p.Pro601Ser
XM_017029526.1:c.1240C>T	XP_016885015.1:p.Pro414Ser
NM_000047.3:c.1726C>T MANE Select	NP_000038.2:p.Pro576Ser
NM_001282631.2:c.1564C>T	NP_001269560.2:p.Pro522Ser
NM_001369079.1:c.1753C>T	NP_001356008.1:p.Pro585Ser
NM_001369080.1:c.1801C>T	NP_001356009.1:p.Pro601Ser
NM_001282628.2:c.1801C>T	NP_001269557.1:p.Pro601Ser