Canonical Allele Identifier: CA397145444

Gene: ACSF3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89133199G>T , CM000678.2:g.89133199G>T	GRCh38
NC_000016.9:g.89199607G>T , CM000678.1:g.89199607G>T	GRCh37
NC_000016.8:g.87727108G>T	NCBI36
NG_031961.1:g.44391G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001243279.3:c.1303G>T MANE Select	NP_001230208.1:p.Glu435Ter
ENST00000614302.5:c.1303G>T MANE Select	ENSP00000479130.1:p.Glu435Ter
NM_001127214.3:c.1303G>T	NP_001120686.1:p.Glu435Ter
NM_001127214.4:c.1303G>T	NP_001120686.1:p.Glu435Ter
NM_001243279.2:c.1303G>T	NP_001230208.1:p.Glu435Ter
NM_001284316.1:c.508G>T	NP_001271245.1:p.Glu170Ter
NM_001284316.2:c.508G>T	NP_001271245.1:p.Glu170Ter
NM_174917.4:c.1303G>T	NP_777577.2:p.Glu435Ter
NM_174917.5:c.1303G>T	NP_777577.2:p.Glu435Ter
NR_104293.1:n.1684G>T
NR_104293.2:n.1641G>T
NR_147928.1:n.1781G>T
NR_147928.2:n.1738G>T
NR_147929.1:n.1535G>T
NR_147929.2:n.1492G>T
ENST00000317447.8:c.1303G>T	ENSP00000320646.4:p.Glu435Ter
ENST00000317447.9:c.1303G>T	ENSP00000320646.4:p.Glu435Ter
ENST00000378345.8:c.508G>T	ENSP00000367596.4:p.Glu170Ter
ENST00000406948.7:c.1303G>T	ENSP00000384627.3:p.Glu435Ter
ENST00000540697.5:c.508G>T	ENSP00000445397.1:p.Glu170Ter
ENST00000542688.5:c.*47G>T	ENSP00000446281.1:n.*47G>T
ENST00000544543.5:c.508G>T	ENSP00000442781.1:p.Glu170Ter
ENST00000562204.1:n.223G>T
ENST00000614302.4:c.1303G>T	ENSP00000479130.1:p.Glu435Ter
ENST00000649953.1:c.1513G>T	ENSP00000497456.1:p.Glu505Ter
XM_005256293.1:c.1303G>T	XP_005256350.1:p.Glu435Ter
XM_005256293.2:c.1303G>T	XP_005256350.1:p.Glu435Ter
XM_011522942.1:c.1303G>T	XP_011521244.1:p.Glu435Ter
XM_011522943.1:c.1303G>T	XP_011521245.1:p.Glu435Ter
XM_017023018.1:c.1303G>T	XP_016878507.1:p.Glu435Ter
XM_017023019.1:c.1303G>T	XP_016878508.1:p.Glu435Ter
XM_017023020.2:c.-3855G>T	XP_016878509.1:n.-3855G>T
XM_017023021.1:c.1303G>T	XP_016878510.1:p.Glu435Ter
XM_017023022.1:c.436G>T	XP_016878511.1:p.Glu146Ter
XM_024450186.1:c.508G>T	XP_024305954.1:p.Glu170Ter
XM_024450187.1:c.508G>T	XP_024305955.1:p.Glu170Ter
XR_001751864.2:n.1497G>T
XR_001751865.1:n.1497G>T
XR_933238.1:n.1647G>T
XR_933238.2:n.1646G>T
XR_933239.1:n.1744G>T
XR_933240.1:n.1741G>T
XR_933240.3:n.1740G>T
XR_933241.1:n.1498G>T