Canonical Allele Identifier: CA397148990

Gene: ACSF3

Linked Data

• MyVariant Identifiers: chr16:g.89212393A>T (hg19) ; chr16:g.89145985A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89145985A>T , CM000678.2:g.89145985A>T	GRCh38
NC_000016.9:g.89212393A>T , CM000678.1:g.89212393A>T	GRCh37
NC_000016.8:g.87739894A>T	NCBI36
NG_031961.1:g.57177A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317447.9:c.1549A>T	ENSP00000320646.4:p.Thr517Ser
ENST00000614302.5:c.1549A>T MANE Select	ENSP00000479130.1:p.Thr517Ser
ENST00000649953.1:c.1759A>T	ENSP00000497456.1:p.Thr587Ser
ENST00000317447.8:c.1549A>T	ENSP00000320646.4:p.Thr517Ser
ENST00000378345.8:c.754A>T	ENSP00000367596.4:p.Thr252Ser
ENST00000406948.7:c.1549A>T	ENSP00000384627.3:p.Thr517Ser
ENST00000535176.1:c.36A>T
ENST00000537116.5:n.675A>T
ENST00000537155.1:n.289A>T
ENST00000542688.5:c.*293A>T	ENSP00000446281.1:n.*293A>T
ENST00000562204.1:n.522A>T
ENST00000614302.4:c.1549A>T	ENSP00000479130.1:p.Thr517Ser
NM_001127214.3:c.1549A>T	NP_001120686.1:p.Thr517Ser
NM_001243279.2:c.1549A>T	NP_001230208.1:p.Thr517Ser
NM_001284316.1:c.754A>T	NP_001271245.1:p.Thr252Ser
NM_174917.4:c.1549A>T	NP_777577.2:p.Thr517Ser
NR_045667.2:n.675A>T
NR_104293.1:n.1983A>T
XM_005256293.1:c.1549A>T	XP_005256350.1:p.Thr517Ser
XM_011522942.1:c.1549A>T	XP_011521244.1:p.Thr517Ser
XM_011522943.1:c.1549A>T	XP_011521245.1:p.Thr517Ser
XR_933239.1:n.1990A>T
XR_933240.1:n.1987A>T
XR_933241.1:n.1744A>T
NR_147928.1:n.2027A>T
NR_147929.1:n.1781A>T
XM_005256293.2:c.1549A>T	XP_005256350.1:p.Thr517Ser
XM_017023018.1:c.1549A>T	XP_016878507.1:p.Thr517Ser
XM_017023019.1:c.1549A>T	XP_016878508.1:p.Thr517Ser
XM_017023020.2:c.-3556A>T	XP_016878509.1:n.-3556A>T
XM_017023022.1:c.682A>T	XP_016878511.1:p.Thr228Ser
XM_024450186.1:c.754A>T	XP_024305954.1:p.Thr252Ser
XM_024450187.1:c.754A>T	XP_024305955.1:p.Thr252Ser
XR_001751864.2:n.1796A>T
XR_001751865.1:n.1743A>T
XR_933240.3:n.1986A>T
NM_001127214.4:c.1549A>T	NP_001120686.1:p.Thr517Ser
NM_001243279.3:c.1549A>T MANE Select	NP_001230208.1:p.Thr517Ser
NM_001284316.2:c.754A>T	NP_001271245.1:p.Thr252Ser
NM_174917.5:c.1549A>T	NP_777577.2:p.Thr517Ser
NR_104293.2:n.1940A>T
NR_147928.2:n.1984A>T
NR_147929.2:n.1738A>T