Canonical Allele Identifier: CA8238301
Gene: ACSF3 HGNC NCBI

Linked Data

ClinVar Variation Id: 379920
dbSNP Id: rs201954387

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89146044G>A , CM000678.2:g.89146044G>A GRCh38
NC_000016.9:g.89212452G>A , CM000678.1:g.89212452G>A GRCh37
NC_000016.8:g.87739953G>A NCBI36
NG_031961.1:g.57236G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317447.9:c.1608G>A ENSP00000320646.4:p.Trp536Ter
ENST00000614302.5:c.1608G>A MANE Select ENSP00000479130.1:p.Trp536Ter
ENST00000649953.1:c.1818G>A ENSP00000497456.1:p.Trp606Ter
ENST00000317447.8:c.1608G>A ENSP00000320646.4:p.Trp536Ter
ENST00000378345.8:c.813G>A ENSP00000367596.4:p.Trp271Ter
ENST00000406948.7:c.1608G>A ENSP00000384627.3:p.Trp536Ter
ENST00000535176.1:c.95G>A
ENST00000537116.5:n.734G>A
ENST00000537155.1:n.348G>A
ENST00000542688.5:c.*352G>A ENSP00000446281.1:n.*352G>A
ENST00000562204.1:n.581G>A
ENST00000614302.4:c.1608G>A ENSP00000479130.1:p.Trp536Ter
NM_001127214.3:c.1608G>A NP_001120686.1:p.Trp536Ter
NM_001243279.2:c.1608G>A NP_001230208.1:p.Trp536Ter
NM_001284316.1:c.813G>A NP_001271245.1:p.Trp271Ter
NM_174917.4:c.1608G>A NP_777577.2:p.Trp536Ter
NR_045667.2:n.734G>A
NR_104293.1:n.2042G>A
XM_005256293.1:c.1608G>A XP_005256350.1:p.Trp536Ter
XM_011522942.1:c.1608G>A XP_011521244.1:p.Trp536Ter
XM_011522943.1:c.1608G>A XP_011521245.1:p.Trp536Ter
XR_933239.1:n.2049G>A
XR_933240.1:n.2046G>A
XR_933241.1:n.1803G>A
NR_147928.1:n.2086G>A
NR_147929.1:n.1840G>A
XM_005256293.2:c.1608G>A XP_005256350.1:p.Trp536Ter
XM_017023018.1:c.1608G>A XP_016878507.1:p.Trp536Ter
XM_017023019.1:c.1608G>A XP_016878508.1:p.Trp536Ter
XM_017023020.2:c.-3497G>A XP_016878509.1:n.-3497G>A
XM_017023022.1:c.741G>A XP_016878511.1:p.Trp247Ter
XM_024450186.1:c.813G>A XP_024305954.1:p.Trp271Ter
XM_024450187.1:c.813G>A XP_024305955.1:p.Trp271Ter
XR_001751864.2:n.1855G>A
XR_001751865.1:n.1802G>A
XR_933240.3:n.2045G>A
NM_001127214.4:c.1608G>A NP_001120686.1:p.Trp536Ter
NM_001243279.3:c.1608G>A MANE Select NP_001230208.1:p.Trp536Ter
NM_001284316.2:c.813G>A NP_001271245.1:p.Trp271Ter
NM_174917.5:c.1608G>A NP_777577.2:p.Trp536Ter
NR_104293.2:n.1999G>A
NR_147928.2:n.2043G>A
NR_147929.2:n.1797G>A