Canonical Allele Identifier: CA874478856
Gene: ARSL HGNC NCBI

Linked Data

dbSNP Id: rs1340143455
gnomAD v3: X-2934820-C-T
gnomAD v4: X-2934820-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.2934820C>T , CM000685.2:g.2934820C>T GRCh38
NC_000023.10:g.2852861C>T , CM000685.1:g.2852861C>T GRCh37
NC_000023.9:g.2862861C>T NCBI36
NG_007091.1:g.34451G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000540563.6:c.*12G>A ENSP00000438198.2:n.*12G>A
ENST00000681963.1:c.*12G>A ENSP00000507760.1:n.*12G>A
ENST00000682184.1:c.*12G>A ENSP00000507043.1:n.*12G>A
ENST00000683191.1:n.1562G>A
ENST00000683290.1:c.*12G>A ENSP00000508156.1:n.*12G>A
ENST00000683677.1:c.*12G>A ENSP00000506786.1:n.*12G>A
ENST00000684117.1:c.*12G>A ENSP00000508337.1:n.*12G>A
ENST00000684364.1:c.*12G>A ENSP00000507304.1:n.*12G>A
ENST00000381134.9:c.*12G>A MANE Select ENSP00000370526.3:n.*12G>A
ENST00000545496.6:c.*12G>A ENSP00000441417.1:n.*12G>A
ENST00000672097.1:c.*12G>A ENSP00000500727.1:n.*12G>A
ENST00000672761.1:c.*12G>A ENSP00000500108.1:n.*12G>A
ENST00000673032.1:c.*12G>A ENSP00000500778.1:n.*12G>A
ENST00000381134.7:c.*12G>A ENSP00000370526.3:n.*12G>A
ENST00000540563.5:c.*12G>A ENSP00000438198.1:n.*12G>A
ENST00000545496.5:c.*12G>A ENSP00000441417.1:n.*12G>A
NM_000047.2:c.*12G>A NP_000038.2:n.*12G>A
NM_001282628.1:c.*12G>A NP_001269557.1:n.*12G>A
NM_001282631.1:c.*12G>A NP_001269560.1:n.*12G>A
XM_005274518.2:c.*12G>A XP_005274575.1:n.*12G>A
XM_005274519.3:c.*12G>A XP_005274576.1:n.*12G>A
XM_005274521.3:c.*12G>A XP_005274578.1:n.*12G>A
XM_011545519.1:c.*12G>A XP_011543821.1:n.*12G>A
XM_011545520.1:c.*12G>A XP_011543822.1:n.*12G>A
XM_011545521.1:c.*12G>A XP_011543823.1:n.*12G>A
XM_005274519.4:c.*12G>A XP_005274576.1:n.*12G>A
XM_005274521.4:c.*12G>A XP_005274578.1:n.*12G>A
XM_017029525.1:c.*12G>A XP_016885014.1:n.*12G>A
XM_017029526.1:c.*12G>A XP_016885015.1:n.*12G>A
NM_000047.3:c.*12G>A MANE Select NP_000038.2:n.*12G>A
NM_001282631.2:c.*12G>A NP_001269560.2:n.*12G>A
NM_001369079.1:c.*12G>A NP_001356008.1:n.*12G>A
NM_001369080.1:c.*12G>A NP_001356009.1:n.*12G>A
NM_001282628.2:c.*12G>A NP_001269557.1:n.*12G>A