Canonical Allele Identifier: CA129717
Gene: ACSF3 HGNC NCBI

Linked Data

ClinVar Variation Id: 31141
ClinVar RCV Id: RCV000024137
dbSNP Id: rs387907121

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89101274T>G , CM000678.2:g.89101274T>G GRCh38
NC_000016.9:g.89167682T>G , CM000678.1:g.89167682T>G GRCh37
NC_000016.8:g.87695183T>G NCBI36
NG_031961.1:g.12466T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000317447.9:c.593T>G ENSP00000320646.4:p.Met198Arg
ENST00000614302.5:c.593T>G MANE Select ENSP00000479130.1:p.Met198Arg
ENST00000649953.1:c.593T>G ENSP00000497456.1:p.Met198Arg
ENST00000317447.8:c.593T>G ENSP00000320646.4:p.Met198Arg
ENST00000378345.8:c.-129-1330T>G ENSP00000367596.4:p.=
ENST00000406948.7:c.593T>G ENSP00000384627.3:p.Met198Arg
ENST00000537290.5:c.593T>G ENSP00000440734.1:p.Met198Arg
ENST00000537895.5:c.-129-1330T>G ENSP00000439201.1:p.=
ENST00000540697.5:c.-129-1330T>G ENSP00000445397.1:p.=
ENST00000542688.5:c.593T>G ENSP00000446281.1:p.Met198Arg
ENST00000614302.4:c.593T>G ENSP00000479130.1:p.Met198Arg
NM_001127214.3:c.593T>G NP_001120686.1:p.Met198Arg
NM_001243279.2:c.593T>G NP_001230208.1:p.Met198Arg
NM_001284316.1:c.-129-1330T>G NP_001271245.1:p.=
NM_174917.4:c.593T>G NP_777577.2:p.Met198Arg
NR_104293.1:n.974T>G
XM_005256293.1:c.593T>G XP_005256350.1:p.Met198Arg
XM_011522942.1:c.593T>G XP_011521244.1:p.Met198Arg
XM_011522943.1:c.593T>G XP_011521245.1:p.Met198Arg
XM_011522944.1:c.593T>G XP_011521246.1:p.Met198Arg
XR_933238.1:n.937T>G
XR_933239.1:n.937T>G
XR_933240.1:n.937T>G
XR_933241.1:n.937T>G
NR_147928.1:n.974T>G
NR_147929.1:n.974T>G
XM_005256293.2:c.593T>G XP_005256350.1:p.Met198Arg
XM_017023018.1:c.593T>G XP_016878507.1:p.Met198Arg
XM_017023019.1:c.593T>G XP_016878508.1:p.Met198Arg
XM_017023020.2:c.-4416T>G XP_016878509.1:p.=
XM_017023021.1:c.593T>G XP_016878510.1:p.Met198Arg
XM_024450186.1:c.-129-1330T>G XP_024305954.1:p.=
XM_024450187.1:c.-129-1330T>G XP_024305955.1:p.=
XR_001751864.2:n.936T>G
XR_001751865.1:n.936T>G
XR_933238.2:n.936T>G
XR_933240.3:n.936T>G
NM_001127214.4:c.593T>G NP_001120686.1:p.Met198Arg
NM_001243279.3:c.593T>G MANE Select NP_001230208.1:p.Met198Arg
NM_001284316.2:c.-129-1330T>G NP_001271245.1:p.=
NM_174917.5:c.593T>G NP_777577.2:p.Met198Arg
NR_104293.2:n.931T>G
NR_147928.2:n.931T>G
NR_147929.2:n.931T>G