Canonical Allele Identifier: CA497147194
Gene: ACSF3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.89212413A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89146005A>C , CM000678.2:g.89146005A>C GRCh38
NC_000016.9:g.89212413A>C , CM000678.1:g.89212413A>C GRCh37
NC_000016.8:g.87739914A>C NCBI36
NG_031961.1:g.57197A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000317447.9:c.1569A>C ENSP00000320646.4:p.Arg523=
ENST00000614302.5:c.1569A>C MANE Select ENSP00000479130.1:p.Arg523=
ENST00000649953.1:c.1779A>C ENSP00000497456.1:p.Arg593=
ENST00000317447.8:c.1569A>C ENSP00000320646.4:p.Arg523=
ENST00000378345.8:c.774A>C ENSP00000367596.4:p.Arg258=
ENST00000406948.7:c.1569A>C ENSP00000384627.3:p.Arg523=
ENST00000535176.1:c.56A>C
ENST00000537116.5:n.695A>C
ENST00000537155.1:n.309A>C
ENST00000542688.5:c.*313A>C ENSP00000446281.1:n.*313A>C
ENST00000562204.1:n.542A>C
ENST00000614302.4:c.1569A>C ENSP00000479130.1:p.Arg523=
NM_001127214.3:c.1569A>C NP_001120686.1:p.Arg523=
NM_001243279.2:c.1569A>C NP_001230208.1:p.Arg523=
NM_001284316.1:c.774A>C NP_001271245.1:p.Arg258=
NM_174917.4:c.1569A>C NP_777577.2:p.Arg523=
NR_045667.2:n.695A>C
NR_104293.1:n.2003A>C
XM_005256293.1:c.1569A>C XP_005256350.1:p.Arg523=
XM_011522942.1:c.1569A>C XP_011521244.1:p.Arg523=
XM_011522943.1:c.1569A>C XP_011521245.1:p.Arg523=
XR_933239.1:n.2010A>C
XR_933240.1:n.2007A>C
XR_933241.1:n.1764A>C
NR_147928.1:n.2047A>C
NR_147929.1:n.1801A>C
XM_005256293.2:c.1569A>C XP_005256350.1:p.Arg523=
XM_017023018.1:c.1569A>C XP_016878507.1:p.Arg523=
XM_017023019.1:c.1569A>C XP_016878508.1:p.Arg523=
XM_017023020.2:c.-3536A>C XP_016878509.1:n.-3536A>C
XM_017023022.1:c.702A>C XP_016878511.1:p.Arg234=
XM_024450186.1:c.774A>C XP_024305954.1:p.Arg258=
XM_024450187.1:c.774A>C XP_024305955.1:p.Arg258=
XR_001751864.2:n.1816A>C
XR_001751865.1:n.1763A>C
XR_933240.3:n.2006A>C
NM_001127214.4:c.1569A>C NP_001120686.1:p.Arg523=
NM_001243279.3:c.1569A>C MANE Select NP_001230208.1:p.Arg523=
NM_001284316.2:c.774A>C NP_001271245.1:p.Arg258=
NM_174917.5:c.1569A>C NP_777577.2:p.Arg523=
NR_104293.2:n.1960A>C
NR_147928.2:n.2004A>C
NR_147929.2:n.1758A>C