Canonical Allele Identifier: CA8237867

Gene: ACSF3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89112125C>T , CM000678.2:g.89112125C>T	GRCh38
NC_000016.9:g.89178533C>T , CM000678.1:g.89178533C>T	GRCh37
NC_000016.8:g.87706034C>T	NCBI36
NG_031961.1:g.23317C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001243279.3:c.856C>T MANE Select	NP_001230208.1:p.Arg286Trp
ENST00000614302.5:c.856C>T MANE Select	ENSP00000479130.1:p.Arg286Trp
NM_001127214.3:c.856C>T	NP_001120686.1:p.Arg286Trp
NM_001127214.4:c.856C>T	NP_001120686.1:p.Arg286Trp
NM_001243279.2:c.856C>T	NP_001230208.1:p.Arg286Trp
NM_001284316.1:c.61C>T	NP_001271245.1:p.Arg21Trp
NM_001284316.2:c.61C>T	NP_001271245.1:p.Arg21Trp
NM_174917.4:c.856C>T	NP_777577.2:p.Arg286Trp
NM_174917.5:c.856C>T	NP_777577.2:p.Arg286Trp
NR_104293.1:n.1237C>T
NR_104293.2:n.1194C>T
NR_147928.1:n.1237C>T
NR_147928.2:n.1194C>T
NR_147929.1:n.1237C>T
NR_147929.2:n.1194C>T
ENST00000317447.8:c.856C>T	ENSP00000320646.4:p.Arg286Trp
ENST00000317447.9:c.856C>T	ENSP00000320646.4:p.Arg286Trp
ENST00000378345.8:c.61C>T	ENSP00000367596.4:p.Arg21Trp
ENST00000406948.7:c.856C>T	ENSP00000384627.3:p.Arg286Trp
ENST00000537895.5:c.61C>T	ENSP00000439201.1:p.Arg21Trp
ENST00000538340.5:c.181C>T	ENSP00000445870.1:p.Arg61Trp
ENST00000540697.5:c.61C>T	ENSP00000445397.1:p.Arg21Trp
ENST00000542688.5:c.856C>T	ENSP00000446281.1:p.Arg286Trp
ENST00000543676.1:c.98C>T
ENST00000544543.5:c.61C>T	ENSP00000442781.1:p.Arg21Trp
ENST00000614302.4:c.856C>T	ENSP00000479130.1:p.Arg286Trp
ENST00000649953.1:c.856C>T	ENSP00000497456.1:p.Arg286Trp
XM_005256293.1:c.856C>T	XP_005256350.1:p.Arg286Trp
XM_005256293.2:c.856C>T	XP_005256350.1:p.Arg286Trp
XM_011522942.1:c.856C>T	XP_011521244.1:p.Arg286Trp
XM_011522943.1:c.856C>T	XP_011521245.1:p.Arg286Trp
XM_011522944.1:c.856C>T	XP_011521246.1:p.Arg286Trp
XM_017023018.1:c.856C>T	XP_016878507.1:p.Arg286Trp
XM_017023019.1:c.856C>T	XP_016878508.1:p.Arg286Trp
XM_017023020.2:c.-4153C>T	XP_016878509.1:n.-4153C>T
XM_017023021.1:c.856C>T	XP_016878510.1:p.Arg286Trp
XM_024450186.1:c.61C>T	XP_024305954.1:p.Arg21Trp
XM_024450187.1:c.61C>T	XP_024305955.1:p.Arg21Trp
XR_001751864.2:n.1199C>T
XR_001751865.1:n.1199C>T
XR_933238.1:n.1200C>T
XR_933238.2:n.1199C>T
XR_933239.1:n.1200C>T
XR_933240.1:n.1200C>T
XR_933240.3:n.1199C>T
XR_933241.1:n.1200C>T