Canonical Allele Identifier: CA397150866

Gene: ACSF3

Linked Data

• MyVariant Identifiers: chr16:g.89220590T>G (hg19) ; chr16:g.89154182T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89154182T>G , CM000678.2:g.89154182T>G	GRCh38
NC_000016.9:g.89220590T>G , CM000678.1:g.89220590T>G	GRCh37
NC_000016.8:g.87748091T>G	NCBI36
NG_031961.1:g.65374T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317447.9:c.1706T>G	ENSP00000320646.4:p.Leu569Arg
ENST00000614302.5:c.1706T>G MANE Select	ENSP00000479130.1:p.Leu569Arg
ENST00000649953.1:c.1916T>G	ENSP00000497456.1:p.Leu639Arg
ENST00000317447.8:c.1706T>G	ENSP00000320646.4:p.Leu569Arg
ENST00000378345.8:c.911T>G	ENSP00000367596.4:p.Leu304Arg
ENST00000393145.5:n.6616T>G
ENST00000406948.7:c.1706T>G	ENSP00000384627.3:p.Leu569Arg
ENST00000537116.5:n.832T>G
ENST00000537155.1:n.446T>G
ENST00000542688.5:c.*450T>G	ENSP00000446281.1:n.*450T>G
ENST00000614302.4:c.1706T>G	ENSP00000479130.1:p.Leu569Arg
NM_001127214.3:c.1706T>G	NP_001120686.1:p.Leu569Arg
NM_001243279.2:c.1706T>G	NP_001230208.1:p.Leu569Arg
NM_001284316.1:c.911T>G	NP_001271245.1:p.Leu304Arg
NM_174917.4:c.1706T>G	NP_777577.2:p.Leu569Arg
NR_045667.2:n.832T>G
NR_104293.1:n.2140T>G
XR_933239.1:n.2147T>G
XR_933240.1:n.2144T>G
XR_933241.1:n.1901T>G
NR_147928.1:n.2184T>G
NR_147929.1:n.1938T>G
XM_017023020.2:c.-3399T>G	XP_016878509.1:n.-3399T>G
XM_024450187.1:c.911T>G	XP_024305955.1:p.Leu304Arg
XR_001751864.2:n.1953T>G
XR_933240.3:n.2143T>G
NM_001127214.4:c.1706T>G	NP_001120686.1:p.Leu569Arg
NM_001243279.3:c.1706T>G MANE Select	NP_001230208.1:p.Leu569Arg
NM_001284316.2:c.911T>G	NP_001271245.1:p.Leu304Arg
NM_174917.5:c.1706T>G	NP_777577.2:p.Leu569Arg
NR_104293.2:n.2097T>G
NR_147928.2:n.2141T>G
NR_147929.2:n.1895T>G