Canonical Allele Identifier: CA8238237
Gene: ACSF3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2228554
ClinVar RCV Id: RCV002707760
dbSNP Id: rs768219025

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89145399C>G , CM000678.2:g.89145399C>G GRCh38
NC_000016.9:g.89211807C>G , CM000678.1:g.89211807C>G GRCh37
NC_000016.8:g.87739308C>G NCBI36
NG_031961.1:g.56591C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000317447.9:c.1499C>G ENSP00000320646.4:p.Thr500Arg
ENST00000614302.5:c.1499C>G MANE Select ENSP00000479130.1:p.Thr500Arg
ENST00000649953.1:c.1709C>G ENSP00000497456.1:p.Thr570Arg
ENST00000317447.8:c.1499C>G ENSP00000320646.4:p.Thr500Arg
ENST00000378345.8:c.704C>G ENSP00000367596.4:p.Thr235Arg
ENST00000406948.7:c.1499C>G ENSP00000384627.3:p.Thr500Arg
ENST00000537116.5:n.625C>G
ENST00000537155.1:n.239C>G
ENST00000542688.5:c.*243C>G ENSP00000446281.1:n.*243C>G
ENST00000544543.5:c.704C>G ENSP00000442781.1:p.Thr235Arg
ENST00000562204.1:n.472C>G
ENST00000614302.4:c.1499C>G ENSP00000479130.1:p.Thr500Arg
NM_001127214.3:c.1499C>G NP_001120686.1:p.Thr500Arg
NM_001243279.2:c.1499C>G NP_001230208.1:p.Thr500Arg
NM_001284316.1:c.704C>G NP_001271245.1:p.Thr235Arg
NM_174917.4:c.1499C>G NP_777577.2:p.Thr500Arg
NR_045667.2:n.625C>G
NR_104293.1:n.1933C>G
XM_005256293.1:c.1499C>G XP_005256350.1:p.Thr500Arg
XM_011522942.1:c.1499C>G XP_011521244.1:p.Thr500Arg
XM_011522943.1:c.1499C>G XP_011521245.1:p.Thr500Arg
XR_933239.1:n.1940C>G
XR_933240.1:n.1937C>G
XR_933241.1:n.1694C>G
NR_147928.1:n.1977C>G
NR_147929.1:n.1731C>G
XM_005256293.2:c.1499C>G XP_005256350.1:p.Thr500Arg
XM_017023018.1:c.1499C>G XP_016878507.1:p.Thr500Arg
XM_017023019.1:c.1499C>G XP_016878508.1:p.Thr500Arg
XM_017023020.2:c.-3606C>G XP_016878509.1:n.-3606C>G
XM_017023022.1:c.632C>G XP_016878511.1:p.Thr211Arg
XM_024450186.1:c.704C>G XP_024305954.1:p.Thr235Arg
XM_024450187.1:c.704C>G XP_024305955.1:p.Thr235Arg
XR_001751864.2:n.1746C>G
XR_001751865.1:n.1693C>G
XR_933240.3:n.1936C>G
NM_001127214.4:c.1499C>G NP_001120686.1:p.Thr500Arg
NM_001243279.3:c.1499C>G MANE Select NP_001230208.1:p.Thr500Arg
NM_001284316.2:c.704C>G NP_001271245.1:p.Thr235Arg
NM_174917.5:c.1499C>G NP_777577.2:p.Thr500Arg
NR_104293.2:n.1890C>G
NR_147928.2:n.1934C>G
NR_147929.2:n.1688C>G