Canonical Allele Identifier: CA286500281

Gene: ACSF3

Linked Data

• dbSNP Id: rs142633119
• gnomAD v2: 16-89220587-C-A
• gnomAD v4: 16-89154179-C-A
• MyVariant Identifiers: chr16:g.89220587C>A (hg19) ; chr16:g.89154179C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89154179C>A , CM000678.2:g.89154179C>A	GRCh38
NC_000016.9:g.89220587C>A , CM000678.1:g.89220587C>A	GRCh37
NC_000016.8:g.87748088C>A	NCBI36
NG_031961.1:g.65371C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317447.9:c.1703C>A	ENSP00000320646.4:p.Ala568Glu
ENST00000614302.5:c.1703C>A MANE Select	ENSP00000479130.1:p.Ala568Glu
ENST00000649953.1:c.1913C>A	ENSP00000497456.1:p.Ala638Glu
ENST00000317447.8:c.1703C>A	ENSP00000320646.4:p.Ala568Glu
ENST00000378345.8:c.908C>A	ENSP00000367596.4:p.Ala303Glu
ENST00000393145.5:n.6613C>A
ENST00000406948.7:c.1703C>A	ENSP00000384627.3:p.Ala568Glu
ENST00000537116.5:n.829C>A
ENST00000537155.1:n.443C>A
ENST00000542688.5:c.*447C>A	ENSP00000446281.1:n.*447C>A
ENST00000614302.4:c.1703C>A	ENSP00000479130.1:p.Ala568Glu
NM_001127214.3:c.1703C>A	NP_001120686.1:p.Ala568Glu
NM_001243279.2:c.1703C>A	NP_001230208.1:p.Ala568Glu
NM_001284316.1:c.908C>A	NP_001271245.1:p.Ala303Glu
NM_174917.4:c.1703C>A	NP_777577.2:p.Ala568Glu
NR_045667.2:n.829C>A
NR_104293.1:n.2137C>A
XR_933239.1:n.2144C>A
XR_933240.1:n.2141C>A
XR_933241.1:n.1898C>A
NR_147928.1:n.2181C>A
NR_147929.1:n.1935C>A
XM_017023020.2:c.-3402C>A	XP_016878509.1:n.-3402C>A
XM_024450187.1:c.908C>A	XP_024305955.1:p.Ala303Glu
XR_001751864.2:n.1950C>A
XR_933240.3:n.2140C>A
NM_001127214.4:c.1703C>A	NP_001120686.1:p.Ala568Glu
NM_001243279.3:c.1703C>A MANE Select	NP_001230208.1:p.Ala568Glu
NM_001284316.2:c.908C>A	NP_001271245.1:p.Ala303Glu
NM_174917.5:c.1703C>A	NP_777577.2:p.Ala568Glu
NR_104293.2:n.2094C>A
NR_147928.2:n.2138C>A
NR_147929.2:n.1892C>A