Canonical Allele Identifier: CA397151008

Gene: ACSF3

Linked Data

• MyVariant Identifiers: chr16:g.89220615A>T (hg19) ; chr16:g.89154207A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89154207A>T , CM000678.2:g.89154207A>T	GRCh38
NC_000016.9:g.89220615A>T , CM000678.1:g.89220615A>T	GRCh37
NC_000016.8:g.87748116A>T	NCBI36
NG_031961.1:g.65399A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317447.9:c.1731A>T	ENSP00000320646.4:p.Ter577Cys
ENST00000614302.5:c.1731A>T MANE Select	ENSP00000479130.1:p.Ter577Cys
ENST00000649953.1:c.1941A>T	ENSP00000497456.1:p.Ter647Cys
ENST00000317447.8:c.1731A>T	ENSP00000320646.4:p.Ter577Cys
ENST00000378345.8:c.936A>T	ENSP00000367596.4:p.Ter312Cys
ENST00000393145.5:n.6641A>T
ENST00000406948.7:c.1731A>T	ENSP00000384627.3:p.Ter577Cys
ENST00000537116.5:n.857A>T
ENST00000537155.1:n.471A>T
ENST00000542688.5:c.*475A>T	ENSP00000446281.1:n.*475A>T
ENST00000614302.4:c.1731A>T	ENSP00000479130.1:p.Ter577Cys
NM_001127214.3:c.1731A>T	NP_001120686.1:p.Ter577Cys
NM_001243279.2:c.1731A>T	NP_001230208.1:p.Ter577Cys
NM_001284316.1:c.936A>T	NP_001271245.1:p.Ter312Cys
NM_174917.4:c.1731A>T	NP_777577.2:p.Ter577Cys
NR_045667.2:n.857A>T
NR_104293.1:n.2165A>T
XR_933239.1:n.2172A>T
XR_933240.1:n.2169A>T
XR_933241.1:n.1926A>T
NR_147928.1:n.2209A>T
NR_147929.1:n.1963A>T
XM_017023020.2:c.-3374A>T	XP_016878509.1:n.-3374A>T
XM_024450187.1:c.936A>T	XP_024305955.1:p.Ter312Cys
XR_001751864.2:n.1978A>T
XR_933240.3:n.2168A>T
NM_001127214.4:c.1731A>T	NP_001120686.1:p.Ter577Cys
NM_001243279.3:c.1731A>T MANE Select	NP_001230208.1:p.Ter577Cys
NM_001284316.2:c.936A>T	NP_001271245.1:p.Ter312Cys
NM_174917.5:c.1731A>T	NP_777577.2:p.Ter577Cys
NR_104293.2:n.2122A>T
NR_147928.2:n.2166A>T
NR_147929.2:n.1920A>T