Canonical Allele Identifier: CA129713
Gene: ACSF3 HGNC NCBI

Linked Data

ClinVar Variation Id: 31139
ClinVar RCV Id: RCV000024135
dbSNP Id: rs387907120

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89114434C>T , CM000678.2:g.89114434C>T GRCh38
NC_000016.9:g.89180842C>T , CM000678.1:g.89180842C>T GRCh37
NC_000016.8:g.87708343C>T NCBI36
NG_031961.1:g.25626C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000317447.9:c.1073C>T ENSP00000320646.4:p.Thr358Ile
ENST00000614302.5:c.1073C>T MANE Select ENSP00000479130.1:p.Thr358Ile
ENST00000649953.1:c.1073C>T ENSP00000497456.1:p.Thr358Ile
ENST00000317447.8:c.1073C>T ENSP00000320646.4:p.Thr358Ile
ENST00000378345.8:c.278C>T ENSP00000367596.4:p.Thr93Ile
ENST00000406948.7:c.1073C>T ENSP00000384627.3:p.Thr358Ile
ENST00000537895.5:c.278C>T ENSP00000439201.1:p.Thr93Ile
ENST00000538340.5:n.302+2188C>T ENSP00000445870.1:p.=
ENST00000540697.5:c.278C>T ENSP00000445397.1:p.Thr93Ile
ENST00000542688.5:c.977+2188C>T ENSP00000446281.1:p.=
ENST00000543676.1:n.315C>T
ENST00000544543.5:c.278C>T ENSP00000442781.1:p.Thr93Ile
ENST00000562204.1:n.46+2188C>T
ENST00000614302.4:c.1073C>T ENSP00000479130.1:p.Thr358Ile
NM_001127214.3:c.1073C>T NP_001120686.1:p.Thr358Ile
NM_001243279.2:c.1073C>T NP_001230208.1:p.Thr358Ile
NM_001284316.1:c.278C>T NP_001271245.1:p.Thr93Ile
NM_174917.4:c.1073C>T NP_777577.2:p.Thr358Ile
NR_104293.1:n.1454C>T
XM_005256293.1:c.1073C>T XP_005256350.1:p.Thr358Ile
XM_011522942.1:c.1073C>T XP_011521244.1:p.Thr358Ile
XM_011522943.1:c.1073C>T XP_011521245.1:p.Thr358Ile
XM_011522944.1:c.1073C>T XP_011521246.1:p.Thr358Ile
XR_933238.1:n.1417C>T
XR_933239.1:n.1417C>T
XR_933240.1:n.1417C>T
XR_933241.1:n.1321+2188C>T
NR_147928.1:n.1454C>T
NR_147929.1:n.1358+2188C>T
XM_005256293.2:c.1073C>T XP_005256350.1:p.Thr358Ile
XM_017023018.1:c.1073C>T XP_016878507.1:p.Thr358Ile
XM_017023019.1:c.1073C>T XP_016878508.1:p.Thr358Ile
XM_017023020.2:c.-4032+2188C>T XP_016878509.1:p.=
XM_017023021.1:c.1073C>T XP_016878510.1:p.Thr358Ile
XM_024450186.1:c.278C>T XP_024305954.1:p.Thr93Ile
XM_024450187.1:c.278C>T XP_024305955.1:p.Thr93Ile
XR_001751864.2:n.1320+2188C>T
XR_001751865.1:n.1320+2188C>T
XR_933238.2:n.1416C>T
XR_933240.3:n.1416C>T
NM_001127214.4:c.1073C>T NP_001120686.1:p.Thr358Ile
NM_001243279.3:c.1073C>T MANE Select NP_001230208.1:p.Thr358Ile
NM_001284316.2:c.278C>T NP_001271245.1:p.Thr93Ile
NM_174917.5:c.1073C>T NP_777577.2:p.Thr358Ile
NR_104293.2:n.1411C>T
NR_147928.2:n.1411C>T
NR_147929.2:n.1315+2188C>T