Canonical Allele Identifier: CA412275107

Gene: ARSL

Linked Data

• dbSNP Id: rs1421448965
• gnomAD v2: X-2852910-G-A
• gnomAD v3: X-2934869-G-A
• gnomAD v4: X-2934869-G-A
• COSMIC: COSM6441848 ; COSM6441849
• MyVariant Identifiers: chrX:g.2852910G>A (hg19) ; chrX:g.2934869G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.2934869G>A , CM000685.2:g.2934869G>A	GRCh38
NC_000023.10:g.2852910G>A , CM000685.1:g.2852910G>A	GRCh37
NC_000023.9:g.2862910G>A	NCBI36
NG_007091.1:g.34402C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000540563.6:c.1733C>T	ENSP00000438198.2:p.Pro578Leu
ENST00000681963.1:c.1808C>T	ENSP00000507760.1:p.Pro603Leu
ENST00000682184.1:c.1610C>T	ENSP00000507043.1:p.Pro537Leu
ENST00000682364.1:c.1172C>T	ENSP00000507604.1:p.Pro391Leu
ENST00000683191.1:n.1513C>T
ENST00000683290.1:c.1808C>T	ENSP00000508156.1:p.Pro603Leu
ENST00000683677.1:c.1721C>T	ENSP00000506786.1:p.Pro574Leu
ENST00000684077.1:c.1286C>T	ENSP00000506767.1:p.Pro429Leu
ENST00000684117.1:c.1571C>T	ENSP00000508337.1:p.Pro524Leu
ENST00000684364.1:c.1721C>T	ENSP00000507304.1:p.Pro574Leu
ENST00000684738.1:c.1172C>T	ENSP00000507481.1:p.Pro391Leu
ENST00000381134.9:c.1733C>T MANE Select	ENSP00000370526.3:p.Pro578Leu
ENST00000545496.6:c.1808C>T	ENSP00000441417.1:p.Pro603Leu
ENST00000672027.1:c.1808C>T	ENSP00000500220.1:p.Pro603Leu
ENST00000672097.1:c.1730C>T	ENSP00000500727.1:p.Pro577Leu
ENST00000672761.1:c.1571C>T	ENSP00000500108.1:p.Pro524Leu
ENST00000673032.1:c.1571C>T	ENSP00000500778.1:p.Pro524Leu
ENST00000381134.7:c.1733C>T	ENSP00000370526.3:p.Pro578Leu
ENST00000540563.5:c.1598C>T	ENSP00000438198.1:p.Pro533Leu
ENST00000545496.5:c.1808C>T	ENSP00000441417.1:p.Pro603Leu
NM_000047.2:c.1733C>T	NP_000038.2:p.Pro578Leu
NM_001282628.1:c.1808C>T	NP_001269557.1:p.Pro603Leu
NM_001282631.1:c.1598C>T	NP_001269560.1:p.Pro533Leu
XM_005274518.2:c.1760C>T	XP_005274575.1:p.Pro587Leu
XM_005274519.3:c.1733C>T	XP_005274576.1:p.Pro578Leu
XM_005274521.3:c.1571C>T	XP_005274578.1:p.Pro524Leu
XM_011545519.1:c.1571C>T	XP_011543821.1:p.Pro524Leu
XM_011545520.1:c.1247C>T	XP_011543822.1:p.Pro416Leu
XM_011545521.1:c.1172C>T	XP_011543823.1:p.Pro391Leu
XM_005274519.4:c.1733C>T	XP_005274576.1:p.Pro578Leu
XM_005274521.4:c.1571C>T	XP_005274578.1:p.Pro524Leu
XM_017029525.1:c.1808C>T	XP_016885014.1:p.Pro603Leu
XM_017029526.1:c.1247C>T	XP_016885015.1:p.Pro416Leu
NM_000047.3:c.1733C>T MANE Select	NP_000038.2:p.Pro578Leu
NM_001282631.2:c.1571C>T	NP_001269560.2:p.Pro524Leu
NM_001369079.1:c.1760C>T	NP_001356008.1:p.Pro587Leu
NM_001369080.1:c.1808C>T	NP_001356009.1:p.Pro603Leu
NM_001282628.2:c.1808C>T	NP_001269557.1:p.Pro603Leu