Canonical Allele Identifier: CA129709
Gene: ACSF3 HGNC NCBI

Linked Data

ClinVar Variation Id: 31137
dbSNP Id: rs138680796

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89145311C>T , CM000678.2:g.89145311C>T GRCh38
NC_000016.9:g.89211719C>T , CM000678.1:g.89211719C>T GRCh37
NC_000016.8:g.87739220C>T NCBI36
NG_031961.1:g.56503C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000317447.9:c.1411C>T ENSP00000320646.4:p.Arg471Trp
ENST00000614302.5:c.1411C>T MANE Select ENSP00000479130.1:p.Arg471Trp
ENST00000649953.1:c.1621C>T ENSP00000497456.1:p.Arg541Trp
ENST00000317447.8:c.1411C>T ENSP00000320646.4:p.Arg471Trp
ENST00000378345.8:c.616C>T ENSP00000367596.4:p.Arg206Trp
ENST00000406948.7:c.1411C>T ENSP00000384627.3:p.Arg471Trp
ENST00000537116.5:n.537C>T
ENST00000537155.1:n.151C>T
ENST00000542688.5:c.*155C>T ENSP00000446281.1:n.*155C>T
ENST00000544543.5:c.616C>T ENSP00000442781.1:p.Arg206Trp
ENST00000562204.1:n.384C>T
ENST00000614302.4:c.1411C>T ENSP00000479130.1:p.Arg471Trp
NM_001127214.3:c.1411C>T NP_001120686.1:p.Arg471Trp
NM_001243279.2:c.1411C>T NP_001230208.1:p.Arg471Trp
NM_001284316.1:c.616C>T NP_001271245.1:p.Arg206Trp
NM_174917.4:c.1411C>T NP_777577.2:p.Arg471Trp
NR_045667.2:n.537C>T
NR_104293.1:n.1845C>T
XM_005256293.1:c.1411C>T XP_005256350.1:p.Arg471Trp
XM_011522942.1:c.1411C>T XP_011521244.1:p.Arg471Trp
XM_011522943.1:c.1411C>T XP_011521245.1:p.Arg471Trp
XR_933239.1:n.1852C>T
XR_933240.1:n.1849C>T
XR_933241.1:n.1606C>T
NR_147928.1:n.1889C>T
NR_147929.1:n.1643C>T
XM_005256293.2:c.1411C>T XP_005256350.1:p.Arg471Trp
XM_017023018.1:c.1411C>T XP_016878507.1:p.Arg471Trp
XM_017023019.1:c.1411C>T XP_016878508.1:p.Arg471Trp
XM_017023020.2:c.-3694C>T XP_016878509.1:n.-3694C>T
XM_017023022.1:c.544C>T XP_016878511.1:p.Arg182Trp
XM_024450186.1:c.616C>T XP_024305954.1:p.Arg206Trp
XM_024450187.1:c.616C>T XP_024305955.1:p.Arg206Trp
XR_001751864.2:n.1658C>T
XR_001751865.1:n.1605C>T
XR_933240.3:n.1848C>T
NM_001127214.4:c.1411C>T NP_001120686.1:p.Arg471Trp
NM_001243279.3:c.1411C>T MANE Select NP_001230208.1:p.Arg471Trp
NM_001284316.2:c.616C>T NP_001271245.1:p.Arg206Trp
NM_174917.5:c.1411C>T NP_777577.2:p.Arg471Trp
NR_104293.2:n.1802C>T
NR_147928.2:n.1846C>T
NR_147929.2:n.1600C>T