Canonical Allele Identifier: CA397145703
Community Standard Title: NM_001243279.3(ACSF3):c.1366+1G>T
Gene: ACSF3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89133263G>T , CM000678.2:g.89133263G>T GRCh38
NC_000016.9:g.89199671G>T , CM000678.1:g.89199671G>T GRCh37
NC_000016.8:g.87727172G>T NCBI36
NG_031961.1:g.44455G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001243279.3:c.1366+1G>T MANE Select NP_001230208.1:n.1366+1G>T
ENST00000614302.5:c.1366+1G>T MANE Select ENSP00000479130.1:n.1366+1G>T
NM_001127214.3:c.1366+1G>T NP_001120686.1:n.1366+1G>T
NM_001127214.4:c.1366+1G>T NP_001120686.1:n.1366+1G>T
NM_001243279.2:c.1366+1G>T NP_001230208.1:n.1366+1G>T
NM_001284316.1:c.571+1G>T NP_001271245.1:n.571+1G>T
NM_001284316.2:c.571+1G>T NP_001271245.1:n.571+1G>T
NM_174917.4:c.1366+1G>T NP_777577.2:n.1366+1G>T
NM_174917.5:c.1366+1G>T NP_777577.2:n.1366+1G>T
NR_104293.1:n.1747+1G>T
NR_104293.2:n.1704+1G>T
NR_147928.1:n.1844+1G>T
NR_147928.2:n.1801+1G>T
NR_147929.1:n.1598+1G>T
NR_147929.2:n.1555+1G>T
ENST00000317447.8:c.1366+1G>T ENSP00000320646.4:n.1366+1G>T
ENST00000317447.9:c.1366+1G>T ENSP00000320646.4:n.1366+1G>T
ENST00000378345.8:c.571+1G>T ENSP00000367596.4:n.571+1G>T
ENST00000406948.7:c.1366+1G>T ENSP00000384627.3:n.1366+1G>T
ENST00000542688.5:c.*110+1G>T ENSP00000446281.1:n.*110+1G>T
ENST00000544543.5:c.571+1G>T ENSP00000442781.1:n.571+1G>T
ENST00000562204.1:n.286+1G>T
ENST00000614302.4:c.1366+1G>T ENSP00000479130.1:n.1366+1G>T
ENST00000649953.1:c.1576+1G>T ENSP00000497456.1:n.1576+1G>T
XM_005256293.1:c.1366+1G>T XP_005256350.1:n.1366+1G>T
XM_005256293.2:c.1366+1G>T XP_005256350.1:n.1366+1G>T
XM_011522942.1:c.1366+1G>T XP_011521244.1:n.1366+1G>T
XM_011522943.1:c.1366+1G>T XP_011521245.1:n.1366+1G>T
XM_017023018.1:c.1366+1G>T XP_016878507.1:n.1366+1G>T
XM_017023019.1:c.1366+1G>T XP_016878508.1:n.1366+1G>T
XM_017023020.2:c.-3792+1G>T XP_016878509.1:n.-3792+1G>T
XM_017023021.1:c.1366+1G>T XP_016878510.1:n.1366+1G>T
XM_017023022.1:c.499+1G>T XP_016878511.1:n.499+1G>T
XM_024450186.1:c.571+1G>T XP_024305954.1:n.571+1G>T
XM_024450187.1:c.571+1G>T XP_024305955.1:n.571+1G>T
XR_001751864.2:n.1560+1G>T
XR_001751865.1:n.1560+1G>T
XR_933238.1:n.1710+1G>T
XR_933238.2:n.1709+1G>T
XR_933239.1:n.1807+1G>T
XR_933240.1:n.1804+1G>T
XR_933240.3:n.1803+1G>T
XR_933241.1:n.1561+1G>T