Canonical Allele Identifier: CA397150739

Gene: ACSF3

Linked Data

• MyVariant Identifiers: chr16:g.89220573G>C (hg19) ; chr16:g.89154165G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89154165G>C , CM000678.2:g.89154165G>C	GRCh38
NC_000016.9:g.89220573G>C , CM000678.1:g.89220573G>C	GRCh37
NC_000016.8:g.87748074G>C	NCBI36
NG_031961.1:g.65357G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317447.9:c.1689G>C	ENSP00000320646.4:p.Lys563Asn
ENST00000614302.5:c.1689G>C MANE Select	ENSP00000479130.1:p.Lys563Asn
ENST00000649953.1:c.1899G>C	ENSP00000497456.1:p.Lys633Asn
ENST00000317447.8:c.1689G>C	ENSP00000320646.4:p.Lys563Asn
ENST00000378345.8:c.894G>C	ENSP00000367596.4:p.Lys298Asn
ENST00000393145.5:n.6599G>C
ENST00000406948.7:c.1689G>C	ENSP00000384627.3:p.Lys563Asn
ENST00000537116.5:n.815G>C
ENST00000537155.1:n.429G>C
ENST00000542688.5:c.*433G>C	ENSP00000446281.1:n.*433G>C
ENST00000614302.4:c.1689G>C	ENSP00000479130.1:p.Lys563Asn
NM_001127214.3:c.1689G>C	NP_001120686.1:p.Lys563Asn
NM_001243279.2:c.1689G>C	NP_001230208.1:p.Lys563Asn
NM_001284316.1:c.894G>C	NP_001271245.1:p.Lys298Asn
NM_174917.4:c.1689G>C	NP_777577.2:p.Lys563Asn
NR_045667.2:n.815G>C
NR_104293.1:n.2123G>C
XR_933239.1:n.2130G>C
XR_933240.1:n.2127G>C
XR_933241.1:n.1884G>C
NR_147928.1:n.2167G>C
NR_147929.1:n.1921G>C
XM_017023020.2:c.-3416G>C	XP_016878509.1:n.-3416G>C
XM_024450187.1:c.894G>C	XP_024305955.1:p.Lys298Asn
XR_001751864.2:n.1936G>C
XR_933240.3:n.2126G>C
NM_001127214.4:c.1689G>C	NP_001120686.1:p.Lys563Asn
NM_001243279.3:c.1689G>C MANE Select	NP_001230208.1:p.Lys563Asn
NM_001284316.2:c.894G>C	NP_001271245.1:p.Lys298Asn
NM_174917.5:c.1689G>C	NP_777577.2:p.Lys563Asn
NR_104293.2:n.2080G>C
NR_147928.2:n.2124G>C
NR_147929.2:n.1878G>C