Canonical Allele Identifier: CA129711
Gene: ACSF3 HGNC NCBI

Linked Data

ClinVar Variation Id: 31138
ClinVar RCV Id: RCV000024134
dbSNP Id: rs387907119

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89145312G>A , CM000678.2:g.89145312G>A GRCh38
NC_000016.9:g.89211720G>A , CM000678.1:g.89211720G>A GRCh37
NC_000016.8:g.87739221G>A NCBI36
NG_031961.1:g.56504G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000317447.9:c.1412G>A ENSP00000320646.4:p.Arg471Gln
ENST00000614302.5:c.1412G>A MANE Select ENSP00000479130.1:p.Arg471Gln
ENST00000649953.1:c.1622G>A ENSP00000497456.1:p.Arg541Gln
ENST00000317447.8:c.1412G>A ENSP00000320646.4:p.Arg471Gln
ENST00000378345.8:c.617G>A ENSP00000367596.4:p.Arg206Gln
ENST00000406948.7:c.1412G>A ENSP00000384627.3:p.Arg471Gln
ENST00000537116.5:n.538G>A
ENST00000537155.1:n.152G>A
ENST00000542688.5:c.*156G>A ENSP00000446281.1:p.=
ENST00000544543.5:c.617G>A ENSP00000442781.1:p.Arg206Gln
ENST00000562204.1:n.385G>A
ENST00000614302.4:c.1412G>A ENSP00000479130.1:p.Arg471Gln
NM_001127214.3:c.1412G>A NP_001120686.1:p.Arg471Gln
NM_001243279.2:c.1412G>A NP_001230208.1:p.Arg471Gln
NM_001284316.1:c.617G>A NP_001271245.1:p.Arg206Gln
NM_174917.4:c.1412G>A NP_777577.2:p.Arg471Gln
NR_045667.2:n.538G>A
NR_104293.1:n.1846G>A
XM_005256293.1:c.1412G>A XP_005256350.1:p.Arg471Gln
XM_011522942.1:c.1412G>A XP_011521244.1:p.Arg471Gln
XM_011522943.1:c.1412G>A XP_011521245.1:p.Arg471Gln
XR_933239.1:n.1853G>A
XR_933240.1:n.1850G>A
XR_933241.1:n.1607G>A
NR_147928.1:n.1890G>A
NR_147929.1:n.1644G>A
XM_005256293.2:c.1412G>A XP_005256350.1:p.Arg471Gln
XM_017023018.1:c.1412G>A XP_016878507.1:p.Arg471Gln
XM_017023019.1:c.1412G>A XP_016878508.1:p.Arg471Gln
XM_017023020.2:c.-3693G>A XP_016878509.1:p.=
XM_017023022.1:c.545G>A XP_016878511.1:p.Arg182Gln
XM_024450186.1:c.617G>A XP_024305954.1:p.Arg206Gln
XM_024450187.1:c.617G>A XP_024305955.1:p.Arg206Gln
XR_001751864.2:n.1659G>A
XR_001751865.1:n.1606G>A
XR_933240.3:n.1849G>A
NM_001127214.4:c.1412G>A NP_001120686.1:p.Arg471Gln
NM_001243279.3:c.1412G>A MANE Select NP_001230208.1:p.Arg471Gln
NM_001284316.2:c.617G>A NP_001271245.1:p.Arg206Gln
NM_174917.5:c.1412G>A NP_777577.2:p.Arg471Gln
NR_104293.2:n.1803G>A
NR_147928.2:n.1847G>A
NR_147929.2:n.1601G>A