Canonical Allele Identifier: CA397142426
Community Standard Title: NM_001243279.3(ACSF3):c.1239+1G>A
Gene: ACSF3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89120914G>A , CM000678.2:g.89120914G>A GRCh38
NC_000016.9:g.89187322G>A , CM000678.1:g.89187322G>A GRCh37
NC_000016.8:g.87714823G>A NCBI36
NG_031961.1:g.32106G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001243279.3:c.1239+1G>A MANE Select NP_001230208.1:n.1239+1G>A
ENST00000614302.5:c.1239+1G>A MANE Select ENSP00000479130.1:n.1239+1G>A
NM_001127214.3:c.1239+1G>A NP_001120686.1:n.1239+1G>A
NM_001127214.4:c.1239+1G>A NP_001120686.1:n.1239+1G>A
NM_001243279.2:c.1239+1G>A NP_001230208.1:n.1239+1G>A
NM_001284316.1:c.444+1G>A NP_001271245.1:n.444+1G>A
NM_001284316.2:c.444+1G>A NP_001271245.1:n.444+1G>A
NM_174917.4:c.1239+1G>A NP_777577.2:n.1239+1G>A
NM_174917.5:c.1239+1G>A NP_777577.2:n.1239+1G>A
NR_104293.1:n.1620+1G>A
NR_104293.2:n.1577+1G>A
NR_147928.1:n.1717+1G>A
NR_147928.2:n.1674+1G>A
NR_147929.1:n.1471+1G>A
NR_147929.2:n.1428+1G>A
ENST00000317447.8:c.1239+1G>A ENSP00000320646.4:n.1239+1G>A
ENST00000317447.9:c.1239+1G>A ENSP00000320646.4:n.1239+1G>A
ENST00000378345.8:c.444+1G>A ENSP00000367596.4:n.444+1G>A
ENST00000406948.7:c.1239+1G>A ENSP00000384627.3:n.1239+1G>A
ENST00000538340.5:c.415+1G>A ENSP00000445870.1:n.415+1G>A
ENST00000540697.5:c.444+1G>A ENSP00000445397.1:n.444+1G>A
ENST00000542688.5:c.1090+1G>A ENSP00000446281.1:n.1090+1G>A
ENST00000543676.1:c.481+1G>A
ENST00000544543.5:c.444+1G>A ENSP00000442781.1:n.444+1G>A
ENST00000562204.1:n.159+1G>A
ENST00000614302.4:c.1239+1G>A ENSP00000479130.1:n.1239+1G>A
ENST00000649953.1:c.1449+1G>A ENSP00000497456.1:n.1449+1G>A
XM_005256293.1:c.1239+1G>A XP_005256350.1:n.1239+1G>A
XM_005256293.2:c.1239+1G>A XP_005256350.1:n.1239+1G>A
XM_011522942.1:c.1239+1G>A XP_011521244.1:n.1239+1G>A
XM_011522943.1:c.1239+1G>A XP_011521245.1:n.1239+1G>A
XM_017023018.1:c.1239+1G>A XP_016878507.1:n.1239+1G>A
XM_017023019.1:c.1239+1G>A XP_016878508.1:n.1239+1G>A
XM_017023020.2:c.-3919+1G>A XP_016878509.1:n.-3919+1G>A
XM_017023021.1:c.1239+1G>A XP_016878510.1:n.1239+1G>A
XM_017023022.1:c.372+1G>A XP_016878511.1:n.372+1G>A
XM_024450186.1:c.444+1G>A XP_024305954.1:n.444+1G>A
XM_024450187.1:c.444+1G>A XP_024305955.1:n.444+1G>A
XR_001751864.2:n.1433+1G>A
XR_001751865.1:n.1433+1G>A
XR_933238.1:n.1583+1G>A
XR_933238.2:n.1582+1G>A
XR_933239.1:n.1680+1G>A
XR_933240.1:n.1677+1G>A
XR_933240.3:n.1676+1G>A
XR_933241.1:n.1434+1G>A