Canonical Allele Identifier: CA397142431

Gene: ACSF3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89120915T>G , CM000678.2:g.89120915T>G	GRCh38
NC_000016.9:g.89187323T>G , CM000678.1:g.89187323T>G	GRCh37
NC_000016.8:g.87714824T>G	NCBI36
NG_031961.1:g.32107T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001243279.3:c.1239+2T>G MANE Select	NP_001230208.1:n.1239+2T>G
ENST00000614302.5:c.1239+2T>G MANE Select	ENSP00000479130.1:n.1239+2T>G
NM_001127214.3:c.1239+2T>G	NP_001120686.1:n.1239+2T>G
NM_001127214.4:c.1239+2T>G	NP_001120686.1:n.1239+2T>G
NM_001243279.2:c.1239+2T>G	NP_001230208.1:n.1239+2T>G
NM_001284316.1:c.444+2T>G	NP_001271245.1:n.444+2T>G
NM_001284316.2:c.444+2T>G	NP_001271245.1:n.444+2T>G
NM_174917.4:c.1239+2T>G	NP_777577.2:n.1239+2T>G
NM_174917.5:c.1239+2T>G	NP_777577.2:n.1239+2T>G
NR_104293.1:n.1620+2T>G
NR_104293.2:n.1577+2T>G
NR_147928.1:n.1717+2T>G
NR_147928.2:n.1674+2T>G
NR_147929.1:n.1471+2T>G
NR_147929.2:n.1428+2T>G
ENST00000317447.8:c.1239+2T>G	ENSP00000320646.4:n.1239+2T>G
ENST00000317447.9:c.1239+2T>G	ENSP00000320646.4:n.1239+2T>G
ENST00000378345.8:c.444+2T>G	ENSP00000367596.4:n.444+2T>G
ENST00000406948.7:c.1239+2T>G	ENSP00000384627.3:n.1239+2T>G
ENST00000538340.5:c.415+2T>G	ENSP00000445870.1:n.415+2T>G
ENST00000540697.5:c.444+2T>G	ENSP00000445397.1:n.444+2T>G
ENST00000542688.5:c.1090+2T>G	ENSP00000446281.1:n.1090+2T>G
ENST00000543676.1:c.481+2T>G
ENST00000544543.5:c.444+2T>G	ENSP00000442781.1:n.444+2T>G
ENST00000562204.1:n.159+2T>G
ENST00000614302.4:c.1239+2T>G	ENSP00000479130.1:n.1239+2T>G
ENST00000649953.1:c.1449+2T>G	ENSP00000497456.1:n.1449+2T>G
XM_005256293.1:c.1239+2T>G	XP_005256350.1:n.1239+2T>G
XM_005256293.2:c.1239+2T>G	XP_005256350.1:n.1239+2T>G
XM_011522942.1:c.1239+2T>G	XP_011521244.1:n.1239+2T>G
XM_011522943.1:c.1239+2T>G	XP_011521245.1:n.1239+2T>G
XM_017023018.1:c.1239+2T>G	XP_016878507.1:n.1239+2T>G
XM_017023019.1:c.1239+2T>G	XP_016878508.1:n.1239+2T>G
XM_017023020.2:c.-3919+2T>G	XP_016878509.1:n.-3919+2T>G
XM_017023021.1:c.1239+2T>G	XP_016878510.1:n.1239+2T>G
XM_017023022.1:c.372+2T>G	XP_016878511.1:n.372+2T>G
XM_024450186.1:c.444+2T>G	XP_024305954.1:n.444+2T>G
XM_024450187.1:c.444+2T>G	XP_024305955.1:n.444+2T>G
XR_001751864.2:n.1433+2T>G
XR_001751865.1:n.1433+2T>G
XR_933238.1:n.1583+2T>G
XR_933238.2:n.1582+2T>G
XR_933239.1:n.1680+2T>G
XR_933240.1:n.1677+2T>G
XR_933240.3:n.1676+2T>G
XR_933241.1:n.1434+2T>G