Canonical Allele Identifier: CA397148959

Gene: ACSF3

Linked Data

• MyVariant Identifiers: chr16:g.89212385A>T (hg19) ; chr16:g.89145977A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89145977A>T , CM000678.2:g.89145977A>T	GRCh38
NC_000016.9:g.89212385A>T , CM000678.1:g.89212385A>T	GRCh37
NC_000016.8:g.87739886A>T	NCBI36
NG_031961.1:g.57169A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317447.9:c.1541A>T	ENSP00000320646.4:p.Gln514Leu
ENST00000614302.5:c.1541A>T MANE Select	ENSP00000479130.1:p.Gln514Leu
ENST00000649953.1:c.1751A>T	ENSP00000497456.1:p.Gln584Leu
ENST00000317447.8:c.1541A>T	ENSP00000320646.4:p.Gln514Leu
ENST00000378345.8:c.746A>T	ENSP00000367596.4:p.Gln249Leu
ENST00000406948.7:c.1541A>T	ENSP00000384627.3:p.Gln514Leu
ENST00000535176.1:c.28A>T
ENST00000537116.5:n.667A>T
ENST00000537155.1:n.281A>T
ENST00000542688.5:c.*285A>T	ENSP00000446281.1:n.*285A>T
ENST00000562204.1:n.514A>T
ENST00000614302.4:c.1541A>T	ENSP00000479130.1:p.Gln514Leu
NM_001127214.3:c.1541A>T	NP_001120686.1:p.Gln514Leu
NM_001243279.2:c.1541A>T	NP_001230208.1:p.Gln514Leu
NM_001284316.1:c.746A>T	NP_001271245.1:p.Gln249Leu
NM_174917.4:c.1541A>T	NP_777577.2:p.Gln514Leu
NR_045667.2:n.667A>T
NR_104293.1:n.1975A>T
XM_005256293.1:c.1541A>T	XP_005256350.1:p.Gln514Leu
XM_011522942.1:c.1541A>T	XP_011521244.1:p.Gln514Leu
XM_011522943.1:c.1541A>T	XP_011521245.1:p.Gln514Leu
XR_933239.1:n.1982A>T
XR_933240.1:n.1979A>T
XR_933241.1:n.1736A>T
NR_147928.1:n.2019A>T
NR_147929.1:n.1773A>T
XM_005256293.2:c.1541A>T	XP_005256350.1:p.Gln514Leu
XM_017023018.1:c.1541A>T	XP_016878507.1:p.Gln514Leu
XM_017023019.1:c.1541A>T	XP_016878508.1:p.Gln514Leu
XM_017023020.2:c.-3564A>T	XP_016878509.1:n.-3564A>T
XM_017023022.1:c.674A>T	XP_016878511.1:p.Gln225Leu
XM_024450186.1:c.746A>T	XP_024305954.1:p.Gln249Leu
XM_024450187.1:c.746A>T	XP_024305955.1:p.Gln249Leu
XR_001751864.2:n.1788A>T
XR_001751865.1:n.1735A>T
XR_933240.3:n.1978A>T
NM_001127214.4:c.1541A>T	NP_001120686.1:p.Gln514Leu
NM_001243279.3:c.1541A>T MANE Select	NP_001230208.1:p.Gln514Leu
NM_001284316.2:c.746A>T	NP_001271245.1:p.Gln249Leu
NM_174917.5:c.1541A>T	NP_777577.2:p.Gln514Leu
NR_104293.2:n.1932A>T
NR_147928.2:n.1976A>T
NR_147929.2:n.1730A>T