Canonical Allele Identifier: CA397150922

Gene: ACSF3

Linked Data

• MyVariant Identifiers: chr16:g.89220601T>A (hg19) ; chr16:g.89154193T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89154193T>A , CM000678.2:g.89154193T>A	GRCh38
NC_000016.9:g.89220601T>A , CM000678.1:g.89220601T>A	GRCh37
NC_000016.8:g.87748102T>A	NCBI36
NG_031961.1:g.65385T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317447.9:c.1717T>A	ENSP00000320646.4:p.Phe573Ile
ENST00000614302.5:c.1717T>A MANE Select	ENSP00000479130.1:p.Phe573Ile
ENST00000649953.1:c.1927T>A	ENSP00000497456.1:p.Phe643Ile
ENST00000317447.8:c.1717T>A	ENSP00000320646.4:p.Phe573Ile
ENST00000378345.8:c.922T>A	ENSP00000367596.4:p.Phe308Ile
ENST00000393145.5:n.6627T>A
ENST00000406948.7:c.1717T>A	ENSP00000384627.3:p.Phe573Ile
ENST00000537116.5:n.843T>A
ENST00000537155.1:n.457T>A
ENST00000542688.5:c.*461T>A	ENSP00000446281.1:n.*461T>A
ENST00000614302.4:c.1717T>A	ENSP00000479130.1:p.Phe573Ile
NM_001127214.3:c.1717T>A	NP_001120686.1:p.Phe573Ile
NM_001243279.2:c.1717T>A	NP_001230208.1:p.Phe573Ile
NM_001284316.1:c.922T>A	NP_001271245.1:p.Phe308Ile
NM_174917.4:c.1717T>A	NP_777577.2:p.Phe573Ile
NR_045667.2:n.843T>A
NR_104293.1:n.2151T>A
XR_933239.1:n.2158T>A
XR_933240.1:n.2155T>A
XR_933241.1:n.1912T>A
NR_147928.1:n.2195T>A
NR_147929.1:n.1949T>A
XM_017023020.2:c.-3388T>A	XP_016878509.1:n.-3388T>A
XM_024450187.1:c.922T>A	XP_024305955.1:p.Phe308Ile
XR_001751864.2:n.1964T>A
XR_933240.3:n.2154T>A
NM_001127214.4:c.1717T>A	NP_001120686.1:p.Phe573Ile
NM_001243279.3:c.1717T>A MANE Select	NP_001230208.1:p.Phe573Ile
NM_001284316.2:c.922T>A	NP_001271245.1:p.Phe308Ile
NM_174917.5:c.1717T>A	NP_777577.2:p.Phe573Ile
NR_104293.2:n.2108T>A
NR_147928.2:n.2152T>A
NR_147929.2:n.1906T>A