Canonical Allele Identifier: CA2241515808
Gene: ACSF3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89146001T= , CM000678.2:g.89146001T= GRCh38
NC_000016.9:g.89212409T= , CM000678.1:g.89212409T= GRCh37
NC_000016.8:g.87739910T= NCBI36
NG_031961.1:g.57193T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000317447.9:c.1565T= ENSP00000320646.4:p.Leu522=
ENST00000614302.5:c.1565T= MANE Select ENSP00000479130.1:p.Leu522=
ENST00000649953.1:c.1775T= ENSP00000497456.1:p.Leu592=
ENST00000317447.8:c.1565T= ENSP00000320646.4:p.Leu522=
ENST00000378345.8:c.770T= ENSP00000367596.4:p.Leu257=
ENST00000406948.7:c.1565T= ENSP00000384627.3:p.Leu522=
ENST00000535176.1:c.52T=
ENST00000537116.5:n.691T=
ENST00000537155.1:n.305T=
ENST00000542688.5:c.*309T= ENSP00000446281.1:n.*309T=
ENST00000562204.1:n.538T=
ENST00000614302.4:c.1565T= ENSP00000479130.1:p.Leu522=
NM_001127214.3:c.1565T= NP_001120686.1:p.Leu522=
NM_001243279.2:c.1565T= NP_001230208.1:p.Leu522=
NM_001284316.1:c.770T= NP_001271245.1:p.Leu257=
NM_174917.4:c.1565T= NP_777577.2:p.Leu522=
NR_045667.2:n.691T=
NR_104293.1:n.1999T=
XM_005256293.1:c.1565T= XP_005256350.1:p.Leu522=
XM_011522942.1:c.1565T= XP_011521244.1:p.Leu522=
XM_011522943.1:c.1565T= XP_011521245.1:p.Leu522=
XR_933239.1:n.2006T=
XR_933240.1:n.2003T=
XR_933241.1:n.1760T=
NR_147928.1:n.2043T=
NR_147929.1:n.1797T=
XM_005256293.2:c.1565T= XP_005256350.1:p.Leu522=
XM_017023018.1:c.1565T= XP_016878507.1:p.Leu522=
XM_017023019.1:c.1565T= XP_016878508.1:p.Leu522=
XM_017023020.2:c.-3540T= XP_016878509.1:n.-3540T=
XM_017023022.1:c.698T= XP_016878511.1:p.Leu233=
XM_024450186.1:c.770T= XP_024305954.1:p.Leu257=
XM_024450187.1:c.770T= XP_024305955.1:p.Leu257=
XR_001751864.2:n.1812T=
XR_001751865.1:n.1759T=
XR_933240.3:n.2002T=
NM_001127214.4:c.1565T= NP_001120686.1:p.Leu522=
NM_001243279.3:c.1565T= MANE Select NP_001230208.1:p.Leu522=
NM_001284316.2:c.770T= NP_001271245.1:p.Leu257=
NM_174917.5:c.1565T= NP_777577.2:p.Leu522=
NR_104293.2:n.1956T=
NR_147928.2:n.2000T=
NR_147929.2:n.1754T=