Canonical Allele Identifier: CA397148929

Gene: ACSF3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89145971G>A , CM000678.2:g.89145971G>A	GRCh38
NC_000016.9:g.89212379G>A , CM000678.1:g.89212379G>A	GRCh37
NC_000016.8:g.87739880G>A	NCBI36
NG_031961.1:g.57163G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001243279.3:c.1535G>A MANE Select	NP_001230208.1:p.Trp512Ter
ENST00000614302.5:c.1535G>A MANE Select	ENSP00000479130.1:p.Trp512Ter
NM_001127214.3:c.1535G>A	NP_001120686.1:p.Trp512Ter
NM_001127214.4:c.1535G>A	NP_001120686.1:p.Trp512Ter
NM_001243279.2:c.1535G>A	NP_001230208.1:p.Trp512Ter
NM_001284316.1:c.740G>A	NP_001271245.1:p.Trp247Ter
NM_001284316.2:c.740G>A	NP_001271245.1:p.Trp247Ter
NM_174917.4:c.1535G>A	NP_777577.2:p.Trp512Ter
NM_174917.5:c.1535G>A	NP_777577.2:p.Trp512Ter
NR_045667.2:n.661G>A
NR_104293.1:n.1969G>A
NR_104293.2:n.1926G>A
NR_147928.1:n.2013G>A
NR_147928.2:n.1970G>A
NR_147929.1:n.1767G>A
NR_147929.2:n.1724G>A
ENST00000317447.8:c.1535G>A	ENSP00000320646.4:p.Trp512Ter
ENST00000317447.9:c.1535G>A	ENSP00000320646.4:p.Trp512Ter
ENST00000378345.8:c.740G>A	ENSP00000367596.4:p.Trp247Ter
ENST00000406948.7:c.1535G>A	ENSP00000384627.3:p.Trp512Ter
ENST00000535176.1:c.22G>A
ENST00000537116.5:n.661G>A
ENST00000537155.1:n.275G>A
ENST00000542688.5:c.*279G>A	ENSP00000446281.1:n.*279G>A
ENST00000562204.1:n.508G>A
ENST00000614302.4:c.1535G>A	ENSP00000479130.1:p.Trp512Ter
ENST00000649953.1:c.1745G>A	ENSP00000497456.1:p.Trp582Ter
XM_005256293.1:c.1535G>A	XP_005256350.1:p.Trp512Ter
XM_005256293.2:c.1535G>A	XP_005256350.1:p.Trp512Ter
XM_011522942.1:c.1535G>A	XP_011521244.1:p.Trp512Ter
XM_011522943.1:c.1535G>A	XP_011521245.1:p.Trp512Ter
XM_017023018.1:c.1535G>A	XP_016878507.1:p.Trp512Ter
XM_017023019.1:c.1535G>A	XP_016878508.1:p.Trp512Ter
XM_017023020.2:c.-3570G>A	XP_016878509.1:n.-3570G>A
XM_017023022.1:c.668G>A	XP_016878511.1:p.Trp223Ter
XM_024450186.1:c.740G>A	XP_024305954.1:p.Trp247Ter
XM_024450187.1:c.740G>A	XP_024305955.1:p.Trp247Ter
XR_001751864.2:n.1782G>A
XR_001751865.1:n.1729G>A
XR_933239.1:n.1976G>A
XR_933240.1:n.1973G>A
XR_933240.3:n.1972G>A
XR_933241.1:n.1730G>A