Canonical Allele Identifier: CA8238230
Gene: ACSF3 HGNC NCBI

Linked Data

ClinVar Variation Id: 377432
dbSNP Id: rs147538370

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89145370G>C , CM000678.2:g.89145370G>C GRCh38
NC_000016.9:g.89211778G>C , CM000678.1:g.89211778G>C GRCh37
NC_000016.8:g.87739279G>C NCBI36
NG_031961.1:g.56562G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000317447.9:c.1470G>C ENSP00000320646.4:p.Glu490Asp
ENST00000614302.5:c.1470G>C MANE Select ENSP00000479130.1:p.Glu490Asp
ENST00000649953.1:c.1680G>C ENSP00000497456.1:p.Glu560Asp
ENST00000317447.8:c.1470G>C ENSP00000320646.4:p.Glu490Asp
ENST00000378345.8:c.675G>C ENSP00000367596.4:p.Glu225Asp
ENST00000406948.7:c.1470G>C ENSP00000384627.3:p.Glu490Asp
ENST00000537116.5:n.596G>C
ENST00000537155.1:n.210G>C
ENST00000542688.5:c.*214G>C ENSP00000446281.1:n.*214G>C
ENST00000544543.5:c.675G>C ENSP00000442781.1:p.Glu225Asp
ENST00000562204.1:n.443G>C
ENST00000614302.4:c.1470G>C ENSP00000479130.1:p.Glu490Asp
NM_001127214.3:c.1470G>C NP_001120686.1:p.Glu490Asp
NM_001243279.2:c.1470G>C NP_001230208.1:p.Glu490Asp
NM_001284316.1:c.675G>C NP_001271245.1:p.Glu225Asp
NM_174917.4:c.1470G>C NP_777577.2:p.Glu490Asp
NR_045667.2:n.596G>C
NR_104293.1:n.1904G>C
XM_005256293.1:c.1470G>C XP_005256350.1:p.Glu490Asp
XM_011522942.1:c.1470G>C XP_011521244.1:p.Glu490Asp
XM_011522943.1:c.1470G>C XP_011521245.1:p.Glu490Asp
XR_933239.1:n.1911G>C
XR_933240.1:n.1908G>C
XR_933241.1:n.1665G>C
NR_147928.1:n.1948G>C
NR_147929.1:n.1702G>C
XM_005256293.2:c.1470G>C XP_005256350.1:p.Glu490Asp
XM_017023018.1:c.1470G>C XP_016878507.1:p.Glu490Asp
XM_017023019.1:c.1470G>C XP_016878508.1:p.Glu490Asp
XM_017023020.2:c.-3635G>C XP_016878509.1:n.-3635G>C
XM_017023022.1:c.603G>C XP_016878511.1:p.Glu201Asp
XM_024450186.1:c.675G>C XP_024305954.1:p.Glu225Asp
XM_024450187.1:c.675G>C XP_024305955.1:p.Glu225Asp
XR_001751864.2:n.1717G>C
XR_001751865.1:n.1664G>C
XR_933240.3:n.1907G>C
NM_001127214.4:c.1470G>C NP_001120686.1:p.Glu490Asp
NM_001243279.3:c.1470G>C MANE Select NP_001230208.1:p.Glu490Asp
NM_001284316.2:c.675G>C NP_001271245.1:p.Glu225Asp
NM_174917.5:c.1470G>C NP_777577.2:p.Glu490Asp
NR_104293.2:n.1861G>C
NR_147928.2:n.1905G>C
NR_147929.2:n.1659G>C