Canonical Allele Identifier: CA515396347
Gene: ARSL HGNC NCBI

Linked Data

dbSNP Id: rs2089174585
gnomAD v4: X-2934886-G-A
MyVariant Identifiers: chrX:g.2852927G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.2934886G>A , CM000685.2:g.2934886G>A GRCh38
NC_000023.10:g.2852927G>A , CM000685.1:g.2852927G>A GRCh37
NC_000023.9:g.2862927G>A NCBI36
NG_007091.1:g.34385C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000540563.6:c.1716C>T ENSP00000438198.2:p.Pro572=
ENST00000681963.1:c.1791C>T ENSP00000507760.1:p.Pro597=
ENST00000682184.1:c.1593C>T ENSP00000507043.1:p.Pro531=
ENST00000682364.1:c.1155C>T ENSP00000507604.1:p.Pro385=
ENST00000683191.1:n.1496C>T
ENST00000683290.1:c.1791C>T ENSP00000508156.1:p.Pro597=
ENST00000683677.1:c.1704C>T ENSP00000506786.1:p.Pro568=
ENST00000684077.1:c.1269C>T ENSP00000506767.1:p.Pro423=
ENST00000684117.1:c.1554C>T ENSP00000508337.1:p.Pro518=
ENST00000684364.1:c.1704C>T ENSP00000507304.1:p.Pro568=
ENST00000684738.1:c.1155C>T ENSP00000507481.1:p.Pro385=
ENST00000381134.9:c.1716C>T MANE Select ENSP00000370526.3:p.Pro572=
ENST00000545496.6:c.1791C>T ENSP00000441417.1:p.Pro597=
ENST00000672027.1:c.1791C>T ENSP00000500220.1:p.Pro597=
ENST00000672097.1:c.1713C>T ENSP00000500727.1:p.Pro571=
ENST00000672761.1:c.1554C>T ENSP00000500108.1:p.Pro518=
ENST00000673032.1:c.1554C>T ENSP00000500778.1:p.Pro518=
ENST00000381134.7:c.1716C>T ENSP00000370526.3:p.Pro572=
ENST00000540563.5:c.1581C>T ENSP00000438198.1:p.Pro527=
ENST00000545496.5:c.1791C>T ENSP00000441417.1:p.Pro597=
NM_000047.2:c.1716C>T NP_000038.2:p.Pro572=
NM_001282628.1:c.1791C>T NP_001269557.1:p.Pro597=
NM_001282631.1:c.1581C>T NP_001269560.1:p.Pro527=
XM_005274518.2:c.1743C>T XP_005274575.1:p.Pro581=
XM_005274519.3:c.1716C>T XP_005274576.1:p.Pro572=
XM_005274521.3:c.1554C>T XP_005274578.1:p.Pro518=
XM_011545519.1:c.1554C>T XP_011543821.1:p.Pro518=
XM_011545520.1:c.1230C>T XP_011543822.1:p.Pro410=
XM_011545521.1:c.1155C>T XP_011543823.1:p.Pro385=
XM_005274519.4:c.1716C>T XP_005274576.1:p.Pro572=
XM_005274521.4:c.1554C>T XP_005274578.1:p.Pro518=
XM_017029525.1:c.1791C>T XP_016885014.1:p.Pro597=
XM_017029526.1:c.1230C>T XP_016885015.1:p.Pro410=
NM_000047.3:c.1716C>T MANE Select NP_000038.2:p.Pro572=
NM_001282631.2:c.1554C>T NP_001269560.2:p.Pro518=
NM_001369079.1:c.1743C>T NP_001356008.1:p.Pro581=
NM_001369080.1:c.1791C>T NP_001356009.1:p.Pro597=
NM_001282628.2:c.1791C>T NP_001269557.1:p.Pro597=