Canonical Allele Identifier: CA129703
Gene: ACSF3 HGNC NCBI

Linked Data

ClinVar Variation Id: 31134
dbSNP Id: rs141090143

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89154148C>T , CM000678.2:g.89154148C>T GRCh38
NC_000016.9:g.89220556C>T , CM000678.1:g.89220556C>T GRCh37
NC_000016.8:g.87748057C>T NCBI36
NG_031961.1:g.65340C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000317447.9:c.1672C>T ENSP00000320646.4:p.Arg558Trp
ENST00000614302.5:c.1672C>T MANE Select ENSP00000479130.1:p.Arg558Trp
ENST00000649953.1:c.1882C>T ENSP00000497456.1:p.Arg628Trp
ENST00000317447.8:c.1672C>T ENSP00000320646.4:p.Arg558Trp
ENST00000378345.8:c.877C>T ENSP00000367596.4:p.Arg293Trp
ENST00000393145.5:n.6582C>T
ENST00000406948.7:c.1672C>T ENSP00000384627.3:p.Arg558Trp
ENST00000537116.5:n.798C>T
ENST00000537155.1:n.412C>T
ENST00000542688.5:c.*416C>T ENSP00000446281.1:n.*416C>T
ENST00000614302.4:c.1672C>T ENSP00000479130.1:p.Arg558Trp
NM_001127214.3:c.1672C>T NP_001120686.1:p.Arg558Trp
NM_001243279.2:c.1672C>T NP_001230208.1:p.Arg558Trp
NM_001284316.1:c.877C>T NP_001271245.1:p.Arg293Trp
NM_174917.4:c.1672C>T NP_777577.2:p.Arg558Trp
NR_045667.2:n.798C>T
NR_104293.1:n.2106C>T
XR_933239.1:n.2113C>T
XR_933240.1:n.2110C>T
XR_933241.1:n.1867C>T
NR_147928.1:n.2150C>T
NR_147929.1:n.1904C>T
XM_017023020.2:c.-3433C>T XP_016878509.1:n.-3433C>T
XM_024450187.1:c.877C>T XP_024305955.1:p.Arg293Trp
XR_001751864.2:n.1919C>T
XR_933240.3:n.2109C>T
NM_001127214.4:c.1672C>T NP_001120686.1:p.Arg558Trp
NM_001243279.3:c.1672C>T MANE Select NP_001230208.1:p.Arg558Trp
NM_001284316.2:c.877C>T NP_001271245.1:p.Arg293Trp
NM_174917.5:c.1672C>T NP_777577.2:p.Arg558Trp
NR_104293.2:n.2063C>T
NR_147928.2:n.2107C>T
NR_147929.2:n.1861C>T