Canonical Allele Identifier: CA397150976

Gene: ACSF3

Linked Data

• MyVariant Identifiers: chr16:g.89220608C>T (hg19) ; chr16:g.89154200C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89154200C>T , CM000678.2:g.89154200C>T	GRCh38
NC_000016.9:g.89220608C>T , CM000678.1:g.89220608C>T	GRCh37
NC_000016.8:g.87748109C>T	NCBI36
NG_031961.1:g.65392C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317447.9:c.1724C>T	ENSP00000320646.4:p.Pro575Leu
ENST00000614302.5:c.1724C>T MANE Select	ENSP00000479130.1:p.Pro575Leu
ENST00000649953.1:c.1934C>T	ENSP00000497456.1:p.Pro645Leu
ENST00000317447.8:c.1724C>T	ENSP00000320646.4:p.Pro575Leu
ENST00000378345.8:c.929C>T	ENSP00000367596.4:p.Pro310Leu
ENST00000393145.5:n.6634C>T
ENST00000406948.7:c.1724C>T	ENSP00000384627.3:p.Pro575Leu
ENST00000537116.5:n.850C>T
ENST00000537155.1:n.464C>T
ENST00000542688.5:c.*468C>T	ENSP00000446281.1:n.*468C>T
ENST00000614302.4:c.1724C>T	ENSP00000479130.1:p.Pro575Leu
NM_001127214.3:c.1724C>T	NP_001120686.1:p.Pro575Leu
NM_001243279.2:c.1724C>T	NP_001230208.1:p.Pro575Leu
NM_001284316.1:c.929C>T	NP_001271245.1:p.Pro310Leu
NM_174917.4:c.1724C>T	NP_777577.2:p.Pro575Leu
NR_045667.2:n.850C>T
NR_104293.1:n.2158C>T
XR_933239.1:n.2165C>T
XR_933240.1:n.2162C>T
XR_933241.1:n.1919C>T
NR_147928.1:n.2202C>T
NR_147929.1:n.1956C>T
XM_017023020.2:c.-3381C>T	XP_016878509.1:n.-3381C>T
XM_024450187.1:c.929C>T	XP_024305955.1:p.Pro310Leu
XR_001751864.2:n.1971C>T
XR_933240.3:n.2161C>T
NM_001127214.4:c.1724C>T	NP_001120686.1:p.Pro575Leu
NM_001243279.3:c.1724C>T MANE Select	NP_001230208.1:p.Pro575Leu
NM_001284316.2:c.929C>T	NP_001271245.1:p.Pro310Leu
NM_174917.5:c.1724C>T	NP_777577.2:p.Pro575Leu
NR_104293.2:n.2115C>T
NR_147928.2:n.2159C>T
NR_147929.2:n.1913C>T