Canonical Allele Identifier: CA412275262
Gene: ARSL HGNC NCBI

Linked Data

dbSNP Id: rs1218013540
gnomAD v2: X-2852982-G-T
gnomAD v3: X-2934941-G-T
gnomAD v4: X-2934941-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.2934941G>T , CM000685.2:g.2934941G>T GRCh38
NC_000023.10:g.2852982G>T , CM000685.1:g.2852982G>T GRCh37
NC_000023.9:g.2862982G>T NCBI36
NG_007091.1:g.34330C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000540563.6:c.1661C>A ENSP00000438198.2:p.Pro554Gln
ENST00000681963.1:c.1736C>A ENSP00000507760.1:p.Pro579Gln
ENST00000682184.1:c.1538C>A ENSP00000507043.1:p.Pro513Gln
ENST00000682364.1:c.1100C>A ENSP00000507604.1:p.Pro367Gln
ENST00000683191.1:n.1441C>A
ENST00000683290.1:c.1736C>A ENSP00000508156.1:p.Pro579Gln
ENST00000683677.1:c.1649C>A ENSP00000506786.1:p.Pro550Gln
ENST00000684077.1:c.1214C>A ENSP00000506767.1:p.Pro405Gln
ENST00000684117.1:c.1499C>A ENSP00000508337.1:p.Pro500Gln
ENST00000684364.1:c.1649C>A ENSP00000507304.1:p.Pro550Gln
ENST00000684738.1:c.1100C>A ENSP00000507481.1:p.Pro367Gln
ENST00000381134.9:c.1661C>A MANE Select ENSP00000370526.3:p.Pro554Gln
ENST00000545496.6:c.1736C>A ENSP00000441417.1:p.Pro579Gln
ENST00000672027.1:c.1736C>A ENSP00000500220.1:p.Pro579Gln
ENST00000672097.1:c.1658C>A ENSP00000500727.1:p.Pro553Gln
ENST00000672761.1:c.1499C>A ENSP00000500108.1:p.Pro500Gln
ENST00000673032.1:c.1499C>A ENSP00000500778.1:p.Pro500Gln
ENST00000381134.7:c.1661C>A ENSP00000370526.3:p.Pro554Gln
ENST00000540563.5:c.1526C>A ENSP00000438198.1:p.Pro509Gln
ENST00000545496.5:c.1736C>A ENSP00000441417.1:p.Pro579Gln
NM_000047.2:c.1661C>A NP_000038.2:p.Pro554Gln
NM_001282628.1:c.1736C>A NP_001269557.1:p.Pro579Gln
NM_001282631.1:c.1526C>A NP_001269560.1:p.Pro509Gln
XM_005274518.2:c.1688C>A XP_005274575.1:p.Pro563Gln
XM_005274519.3:c.1661C>A XP_005274576.1:p.Pro554Gln
XM_005274521.3:c.1499C>A XP_005274578.1:p.Pro500Gln
XM_011545519.1:c.1499C>A XP_011543821.1:p.Pro500Gln
XM_011545520.1:c.1175C>A XP_011543822.1:p.Pro392Gln
XM_011545521.1:c.1100C>A XP_011543823.1:p.Pro367Gln
XM_005274519.4:c.1661C>A XP_005274576.1:p.Pro554Gln
XM_005274521.4:c.1499C>A XP_005274578.1:p.Pro500Gln
XM_017029525.1:c.1736C>A XP_016885014.1:p.Pro579Gln
XM_017029526.1:c.1175C>A XP_016885015.1:p.Pro392Gln
NM_000047.3:c.1661C>A MANE Select NP_000038.2:p.Pro554Gln
NM_001282631.2:c.1499C>A NP_001269560.2:p.Pro500Gln
NM_001369079.1:c.1688C>A NP_001356008.1:p.Pro563Gln
NM_001369080.1:c.1736C>A NP_001356009.1:p.Pro579Gln
NM_001282628.2:c.1736C>A NP_001269557.1:p.Pro579Gln