Canonical Allele Identifier: CA397150365

Gene: ACSF3

Linked Data

• gnomAD v4: 16-89154091-A-G
• MyVariant Identifiers: chr16:g.89220499A>G (hg19) ; chr16:g.89154091A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89154091A>G , CM000678.2:g.89154091A>G	GRCh38
NC_000016.9:g.89220499A>G , CM000678.1:g.89220499A>G	GRCh37
NC_000016.8:g.87748000A>G	NCBI36
NG_031961.1:g.65283A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317447.9:c.1615A>G	ENSP00000320646.4:p.Asn539Asp
ENST00000614302.5:c.1615A>G MANE Select	ENSP00000479130.1:p.Asn539Asp
ENST00000649953.1:c.1825A>G	ENSP00000497456.1:p.Asn609Asp
ENST00000317447.8:c.1615A>G	ENSP00000320646.4:p.Asn539Asp
ENST00000378345.8:c.820A>G	ENSP00000367596.4:p.Asn274Asp
ENST00000393145.5:n.6525A>G
ENST00000406948.7:c.1615A>G	ENSP00000384627.3:p.Asn539Asp
ENST00000537116.5:n.741A>G
ENST00000537155.1:n.355A>G
ENST00000542688.5:c.*359A>G	ENSP00000446281.1:n.*359A>G
ENST00000614302.4:c.1615A>G	ENSP00000479130.1:p.Asn539Asp
NM_001127214.3:c.1615A>G	NP_001120686.1:p.Asn539Asp
NM_001243279.2:c.1615A>G	NP_001230208.1:p.Asn539Asp
NM_001284316.1:c.820A>G	NP_001271245.1:p.Asn274Asp
NM_174917.4:c.1615A>G	NP_777577.2:p.Asn539Asp
NR_045667.2:n.741A>G
NR_104293.1:n.2049A>G
XR_933239.1:n.2056A>G
XR_933240.1:n.2053A>G
XR_933241.1:n.1810A>G
NR_147928.1:n.2093A>G
NR_147929.1:n.1847A>G
XM_017023020.2:c.-3490A>G	XP_016878509.1:n.-3490A>G
XM_024450187.1:c.820A>G	XP_024305955.1:p.Asn274Asp
XR_001751864.2:n.1862A>G
XR_933240.3:n.2052A>G
NM_001127214.4:c.1615A>G	NP_001120686.1:p.Asn539Asp
NM_001243279.3:c.1615A>G MANE Select	NP_001230208.1:p.Asn539Asp
NM_001284316.2:c.820A>G	NP_001271245.1:p.Asn274Asp
NM_174917.5:c.1615A>G	NP_777577.2:p.Asn539Asp
NR_104293.2:n.2006A>G
NR_147928.2:n.2050A>G
NR_147929.2:n.1804A>G