Canonical Allele Identifier: CA397150555
Gene: ACSF3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89154140A>C , CM000678.2:g.89154140A>C GRCh38
NC_000016.9:g.89220548A>C , CM000678.1:g.89220548A>C GRCh37
NC_000016.8:g.87748049A>C NCBI36
NG_031961.1:g.65332A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000317447.9:c.1664A>C ENSP00000320646.4:p.Glu555Ala
ENST00000614302.5:c.1664A>C MANE Select ENSP00000479130.1:p.Glu555Ala
ENST00000649953.1:c.1874A>C ENSP00000497456.1:p.Glu625Ala
ENST00000317447.8:c.1664A>C ENSP00000320646.4:p.Glu555Ala
ENST00000378345.8:c.869A>C ENSP00000367596.4:p.Glu290Ala
ENST00000393145.5:n.6574A>C
ENST00000406948.7:c.1664A>C ENSP00000384627.3:p.Glu555Ala
ENST00000537116.5:n.790A>C
ENST00000537155.1:n.404A>C
ENST00000542688.5:c.*408A>C ENSP00000446281.1:n.*408A>C
ENST00000614302.4:c.1664A>C ENSP00000479130.1:p.Glu555Ala
NM_001127214.3:c.1664A>C NP_001120686.1:p.Glu555Ala
NM_001243279.2:c.1664A>C NP_001230208.1:p.Glu555Ala
NM_001284316.1:c.869A>C NP_001271245.1:p.Glu290Ala
NM_174917.4:c.1664A>C NP_777577.2:p.Glu555Ala
NR_045667.2:n.790A>C
NR_104293.1:n.2098A>C
XR_933239.1:n.2105A>C
XR_933240.1:n.2102A>C
XR_933241.1:n.1859A>C
NR_147928.1:n.2142A>C
NR_147929.1:n.1896A>C
XM_017023020.2:c.-3441A>C XP_016878509.1:n.-3441A>C
XM_024450187.1:c.869A>C XP_024305955.1:p.Glu290Ala
XR_001751864.2:n.1911A>C
XR_933240.3:n.2101A>C
NM_001127214.4:c.1664A>C NP_001120686.1:p.Glu555Ala
NM_001243279.3:c.1664A>C MANE Select NP_001230208.1:p.Glu555Ala
NM_001284316.2:c.869A>C NP_001271245.1:p.Glu290Ala
NM_174917.5:c.1664A>C NP_777577.2:p.Glu555Ala
NR_104293.2:n.2055A>C
NR_147928.2:n.2099A>C
NR_147929.2:n.1853A>C