Canonical Allele Identifier: CA397142250

Gene: ACSF3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89120846C>G , CM000678.2:g.89120846C>G	GRCh38
NC_000016.9:g.89187254C>G , CM000678.1:g.89187254C>G	GRCh37
NC_000016.8:g.87714755C>G	NCBI36
NG_031961.1:g.32038C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001243279.3:c.1172C>G MANE Select	NP_001230208.1:p.Ser391Ter
ENST00000614302.5:c.1172C>G MANE Select	ENSP00000479130.1:p.Ser391Ter
NM_001127214.3:c.1172C>G	NP_001120686.1:p.Ser391Ter
NM_001127214.4:c.1172C>G	NP_001120686.1:p.Ser391Ter
NM_001243279.2:c.1172C>G	NP_001230208.1:p.Ser391Ter
NM_001284316.1:c.377C>G	NP_001271245.1:p.Ser126Ter
NM_001284316.2:c.377C>G	NP_001271245.1:p.Ser126Ter
NM_174917.4:c.1172C>G	NP_777577.2:p.Ser391Ter
NM_174917.5:c.1172C>G	NP_777577.2:p.Ser391Ter
NR_104293.1:n.1553C>G
NR_104293.2:n.1510C>G
NR_147928.1:n.1650C>G
NR_147928.2:n.1607C>G
NR_147929.1:n.1404C>G
NR_147929.2:n.1361C>G
ENST00000317447.8:c.1172C>G	ENSP00000320646.4:p.Ser391Ter
ENST00000317447.9:c.1172C>G	ENSP00000320646.4:p.Ser391Ter
ENST00000378345.8:c.377C>G	ENSP00000367596.4:p.Ser126Ter
ENST00000406948.7:c.1172C>G	ENSP00000384627.3:p.Ser391Ter
ENST00000538340.5:c.348C>G	ENSP00000445870.1:p.Leu116=
ENST00000540697.5:c.377C>G	ENSP00000445397.1:p.Ser126Ter
ENST00000542688.5:c.1023C>G	ENSP00000446281.1:p.Leu341=
ENST00000543676.1:c.414C>G
ENST00000544543.5:c.377C>G	ENSP00000442781.1:p.Ser126Ter
ENST00000562204.1:n.92C>G
ENST00000614302.4:c.1172C>G	ENSP00000479130.1:p.Ser391Ter
ENST00000649953.1:c.1382C>G	ENSP00000497456.1:p.Ser461Ter
XM_005256293.1:c.1172C>G	XP_005256350.1:p.Ser391Ter
XM_005256293.2:c.1172C>G	XP_005256350.1:p.Ser391Ter
XM_011522942.1:c.1172C>G	XP_011521244.1:p.Ser391Ter
XM_011522943.1:c.1172C>G	XP_011521245.1:p.Ser391Ter
XM_017023018.1:c.1172C>G	XP_016878507.1:p.Ser391Ter
XM_017023019.1:c.1172C>G	XP_016878508.1:p.Ser391Ter
XM_017023020.2:c.-3986C>G	XP_016878509.1:n.-3986C>G
XM_017023021.1:c.1172C>G	XP_016878510.1:p.Ser391Ter
XM_017023022.1:c.305C>G	XP_016878511.1:p.Ser102Ter
XM_024450186.1:c.377C>G	XP_024305954.1:p.Ser126Ter
XM_024450187.1:c.377C>G	XP_024305955.1:p.Ser126Ter
XR_001751864.2:n.1366C>G
XR_001751865.1:n.1366C>G
XR_933238.1:n.1516C>G
XR_933238.2:n.1515C>G
XR_933239.1:n.1613C>G
XR_933240.1:n.1610C>G
XR_933240.3:n.1609C>G
XR_933241.1:n.1367C>G