Canonical Allele Identifier: CA397150447

Gene: ACSF3

Linked Data

• MyVariant Identifiers: chr16:g.89220520G>C (hg19) ; chr16:g.89154112G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89154112G>C , CM000678.2:g.89154112G>C	GRCh38
NC_000016.9:g.89220520G>C , CM000678.1:g.89220520G>C	GRCh37
NC_000016.8:g.87748021G>C	NCBI36
NG_031961.1:g.65304G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317447.9:c.1636G>C	ENSP00000320646.4:p.Val546Leu
ENST00000614302.5:c.1636G>C MANE Select	ENSP00000479130.1:p.Val546Leu
ENST00000649953.1:c.1846G>C	ENSP00000497456.1:p.Val616Leu
ENST00000317447.8:c.1636G>C	ENSP00000320646.4:p.Val546Leu
ENST00000378345.8:c.841G>C	ENSP00000367596.4:p.Val281Leu
ENST00000393145.5:n.6546G>C
ENST00000406948.7:c.1636G>C	ENSP00000384627.3:p.Val546Leu
ENST00000537116.5:n.762G>C
ENST00000537155.1:n.376G>C
ENST00000542688.5:c.*380G>C	ENSP00000446281.1:n.*380G>C
ENST00000614302.4:c.1636G>C	ENSP00000479130.1:p.Val546Leu
NM_001127214.3:c.1636G>C	NP_001120686.1:p.Val546Leu
NM_001243279.2:c.1636G>C	NP_001230208.1:p.Val546Leu
NM_001284316.1:c.841G>C	NP_001271245.1:p.Val281Leu
NM_174917.4:c.1636G>C	NP_777577.2:p.Val546Leu
NR_045667.2:n.762G>C
NR_104293.1:n.2070G>C
XR_933239.1:n.2077G>C
XR_933240.1:n.2074G>C
XR_933241.1:n.1831G>C
NR_147928.1:n.2114G>C
NR_147929.1:n.1868G>C
XM_017023020.2:c.-3469G>C	XP_016878509.1:n.-3469G>C
XM_024450187.1:c.841G>C	XP_024305955.1:p.Val281Leu
XR_001751864.2:n.1883G>C
XR_933240.3:n.2073G>C
NM_001127214.4:c.1636G>C	NP_001120686.1:p.Val546Leu
NM_001243279.3:c.1636G>C MANE Select	NP_001230208.1:p.Val546Leu
NM_001284316.2:c.841G>C	NP_001271245.1:p.Val281Leu
NM_174917.5:c.1636G>C	NP_777577.2:p.Val546Leu
NR_104293.2:n.2027G>C
NR_147928.2:n.2071G>C
NR_147929.2:n.1825G>C