Canonical Allele Identifier: CA397148007

Gene: ACSF3

Linked Data

• MyVariant Identifiers: chr16:g.89211681C>T (hg19) ; chr16:g.89145273C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89145273C>T , CM000678.2:g.89145273C>T	GRCh38
NC_000016.9:g.89211681C>T , CM000678.1:g.89211681C>T	GRCh37
NC_000016.8:g.87739182C>T	NCBI36
NG_031961.1:g.56465C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317447.9:c.1373C>T	ENSP00000320646.4:p.Thr458Ile
ENST00000614302.5:c.1373C>T MANE Select	ENSP00000479130.1:p.Thr458Ile
ENST00000649953.1:c.1583C>T	ENSP00000497456.1:p.Thr528Ile
ENST00000317447.8:c.1373C>T	ENSP00000320646.4:p.Thr458Ile
ENST00000378345.8:c.578C>T	ENSP00000367596.4:p.Thr193Ile
ENST00000406948.7:c.1373C>T	ENSP00000384627.3:p.Thr458Ile
ENST00000537116.5:n.499C>T
ENST00000537155.1:n.113C>T
ENST00000542688.5:c.*117C>T	ENSP00000446281.1:n.*117C>T
ENST00000544543.5:c.578C>T	ENSP00000442781.1:p.Thr193Ile
ENST00000562204.1:n.346C>T
ENST00000614302.4:c.1373C>T	ENSP00000479130.1:p.Thr458Ile
NM_001127214.3:c.1373C>T	NP_001120686.1:p.Thr458Ile
NM_001243279.2:c.1373C>T	NP_001230208.1:p.Thr458Ile
NM_001284316.1:c.578C>T	NP_001271245.1:p.Thr193Ile
NM_174917.4:c.1373C>T	NP_777577.2:p.Thr458Ile
NR_045667.2:n.499C>T
NR_104293.1:n.1807C>T
XM_005256293.1:c.1373C>T	XP_005256350.1:p.Thr458Ile
XM_011522942.1:c.1373C>T	XP_011521244.1:p.Thr458Ile
XM_011522943.1:c.1373C>T	XP_011521245.1:p.Thr458Ile
XR_933239.1:n.1814C>T
XR_933240.1:n.1811C>T
XR_933241.1:n.1568C>T
NR_147928.1:n.1851C>T
NR_147929.1:n.1605C>T
XM_005256293.2:c.1373C>T	XP_005256350.1:p.Thr458Ile
XM_017023018.1:c.1373C>T	XP_016878507.1:p.Thr458Ile
XM_017023019.1:c.1373C>T	XP_016878508.1:p.Thr458Ile
XM_017023020.2:c.-3732C>T	XP_016878509.1:n.-3732C>T
XM_017023022.1:c.506C>T	XP_016878511.1:p.Thr169Ile
XM_024450186.1:c.578C>T	XP_024305954.1:p.Thr193Ile
XM_024450187.1:c.578C>T	XP_024305955.1:p.Thr193Ile
XR_001751864.2:n.1620C>T
XR_001751865.1:n.1567C>T
XR_933240.3:n.1810C>T
NM_001127214.4:c.1373C>T	NP_001120686.1:p.Thr458Ile
NM_001243279.3:c.1373C>T MANE Select	NP_001230208.1:p.Thr458Ile
NM_001284316.2:c.578C>T	NP_001271245.1:p.Thr193Ile
NM_174917.5:c.1373C>T	NP_777577.2:p.Thr458Ile
NR_104293.2:n.1764C>T
NR_147928.2:n.1808C>T
NR_147929.2:n.1562C>T