Canonical Allele Identifier: CA397150875

Gene: ACSF3

Linked Data

• MyVariant Identifiers: chr16:g.89220592A>T (hg19) ; chr16:g.89154184A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89154184A>T , CM000678.2:g.89154184A>T	GRCh38
NC_000016.9:g.89220592A>T , CM000678.1:g.89220592A>T	GRCh37
NC_000016.8:g.87748093A>T	NCBI36
NG_031961.1:g.65376A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317447.9:c.1708A>T	ENSP00000320646.4:p.Ile570Phe
ENST00000614302.5:c.1708A>T MANE Select	ENSP00000479130.1:p.Ile570Phe
ENST00000649953.1:c.1918A>T	ENSP00000497456.1:p.Ile640Phe
ENST00000317447.8:c.1708A>T	ENSP00000320646.4:p.Ile570Phe
ENST00000378345.8:c.913A>T	ENSP00000367596.4:p.Ile305Phe
ENST00000393145.5:n.6618A>T
ENST00000406948.7:c.1708A>T	ENSP00000384627.3:p.Ile570Phe
ENST00000537116.5:n.834A>T
ENST00000537155.1:n.448A>T
ENST00000542688.5:c.*452A>T	ENSP00000446281.1:n.*452A>T
ENST00000614302.4:c.1708A>T	ENSP00000479130.1:p.Ile570Phe
NM_001127214.3:c.1708A>T	NP_001120686.1:p.Ile570Phe
NM_001243279.2:c.1708A>T	NP_001230208.1:p.Ile570Phe
NM_001284316.1:c.913A>T	NP_001271245.1:p.Ile305Phe
NM_174917.4:c.1708A>T	NP_777577.2:p.Ile570Phe
NR_045667.2:n.834A>T
NR_104293.1:n.2142A>T
XR_933239.1:n.2149A>T
XR_933240.1:n.2146A>T
XR_933241.1:n.1903A>T
NR_147928.1:n.2186A>T
NR_147929.1:n.1940A>T
XM_017023020.2:c.-3397A>T	XP_016878509.1:n.-3397A>T
XM_024450187.1:c.913A>T	XP_024305955.1:p.Ile305Phe
XR_001751864.2:n.1955A>T
XR_933240.3:n.2145A>T
NM_001127214.4:c.1708A>T	NP_001120686.1:p.Ile570Phe
NM_001243279.3:c.1708A>T MANE Select	NP_001230208.1:p.Ile570Phe
NM_001284316.2:c.913A>T	NP_001271245.1:p.Ile305Phe
NM_174917.5:c.1708A>T	NP_777577.2:p.Ile570Phe
NR_104293.2:n.2099A>T
NR_147928.2:n.2143A>T
NR_147929.2:n.1897A>T