Canonical Allele Identifier: CA397139265
Community Standard Title: NM_001243279.3(ACSF3):c.909C>G (p.Tyr303Ter)
Gene: ACSF3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89112178C>G , CM000678.2:g.89112178C>G GRCh38
NC_000016.9:g.89178586C>G , CM000678.1:g.89178586C>G GRCh37
NC_000016.8:g.87706087C>G NCBI36
NG_031961.1:g.23370C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001243279.3:c.909C>G MANE Select NP_001230208.1:p.Tyr303Ter
ENST00000614302.5:c.909C>G MANE Select ENSP00000479130.1:p.Tyr303Ter
NM_001127214.3:c.909C>G NP_001120686.1:p.Tyr303Ter
NM_001127214.4:c.909C>G NP_001120686.1:p.Tyr303Ter
NM_001243279.2:c.909C>G NP_001230208.1:p.Tyr303Ter
NM_001284316.1:c.114C>G NP_001271245.1:p.Tyr38Ter
NM_001284316.2:c.114C>G NP_001271245.1:p.Tyr38Ter
NM_174917.4:c.909C>G NP_777577.2:p.Tyr303Ter
NM_174917.5:c.909C>G NP_777577.2:p.Tyr303Ter
NR_104293.1:n.1290C>G
NR_104293.2:n.1247C>G
NR_147928.1:n.1290C>G
NR_147928.2:n.1247C>G
NR_147929.1:n.1290C>G
NR_147929.2:n.1247C>G
ENST00000317447.8:c.909C>G ENSP00000320646.4:p.Tyr303Ter
ENST00000317447.9:c.909C>G ENSP00000320646.4:p.Tyr303Ter
ENST00000378345.8:c.114C>G ENSP00000367596.4:p.Tyr38Ter
ENST00000406948.7:c.909C>G ENSP00000384627.3:p.Tyr303Ter
ENST00000537895.5:c.114C>G ENSP00000439201.1:p.Tyr38Ter
ENST00000538340.5:c.234C>G ENSP00000445870.1:p.Tyr78Ter
ENST00000540697.5:c.114C>G ENSP00000445397.1:p.Tyr38Ter
ENST00000542688.5:c.909C>G ENSP00000446281.1:p.Tyr303Ter
ENST00000543676.1:c.151C>G
ENST00000544543.5:c.114C>G ENSP00000442781.1:p.Tyr38Ter
ENST00000614302.4:c.909C>G ENSP00000479130.1:p.Tyr303Ter
ENST00000649953.1:c.909C>G ENSP00000497456.1:p.Tyr303Ter
XM_005256293.1:c.909C>G XP_005256350.1:p.Tyr303Ter
XM_005256293.2:c.909C>G XP_005256350.1:p.Tyr303Ter
XM_011522942.1:c.909C>G XP_011521244.1:p.Tyr303Ter
XM_011522943.1:c.909C>G XP_011521245.1:p.Tyr303Ter
XM_011522944.1:c.909C>G XP_011521246.1:p.Tyr303Ter
XM_017023018.1:c.909C>G XP_016878507.1:p.Tyr303Ter
XM_017023019.1:c.909C>G XP_016878508.1:p.Tyr303Ter
XM_017023020.2:c.-4100C>G XP_016878509.1:n.-4100C>G
XM_017023021.1:c.909C>G XP_016878510.1:p.Tyr303Ter
XM_024450186.1:c.114C>G XP_024305954.1:p.Tyr38Ter
XM_024450187.1:c.114C>G XP_024305955.1:p.Tyr38Ter
XR_001751864.2:n.1252C>G
XR_001751865.1:n.1252C>G
XR_933238.1:n.1253C>G
XR_933238.2:n.1252C>G
XR_933239.1:n.1253C>G
XR_933240.1:n.1253C>G
XR_933240.3:n.1252C>G
XR_933241.1:n.1253C>G