Canonical Allele Identifier: CA8238289

Gene: ACSF3

Linked Data

• dbSNP Id: rs763350039
• ExAC: 16:89212408 C / A
• gnomAD v2: 16-89212408-C-A
• gnomAD v4: 16-89146000-C-A
• MyVariant Identifiers: chr16:g.89212408C>A (hg19) ; chr16:g.89146000C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89146000C>A , CM000678.2:g.89146000C>A	GRCh38
NC_000016.9:g.89212408C>A , CM000678.1:g.89212408C>A	GRCh37
NC_000016.8:g.87739909C>A	NCBI36
NG_031961.1:g.57192C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317447.9:c.1564C>A	ENSP00000320646.4:p.Leu522Ile
ENST00000614302.5:c.1564C>A MANE Select	ENSP00000479130.1:p.Leu522Ile
ENST00000649953.1:c.1774C>A	ENSP00000497456.1:p.Leu592Ile
ENST00000317447.8:c.1564C>A	ENSP00000320646.4:p.Leu522Ile
ENST00000378345.8:c.769C>A	ENSP00000367596.4:p.Leu257Ile
ENST00000406948.7:c.1564C>A	ENSP00000384627.3:p.Leu522Ile
ENST00000535176.1:c.51C>A
ENST00000537116.5:n.690C>A
ENST00000537155.1:n.304C>A
ENST00000542688.5:c.*308C>A	ENSP00000446281.1:n.*308C>A
ENST00000562204.1:n.537C>A
ENST00000614302.4:c.1564C>A	ENSP00000479130.1:p.Leu522Ile
NM_001127214.3:c.1564C>A	NP_001120686.1:p.Leu522Ile
NM_001243279.2:c.1564C>A	NP_001230208.1:p.Leu522Ile
NM_001284316.1:c.769C>A	NP_001271245.1:p.Leu257Ile
NM_174917.4:c.1564C>A	NP_777577.2:p.Leu522Ile
NR_045667.2:n.690C>A
NR_104293.1:n.1998C>A
XM_005256293.1:c.1564C>A	XP_005256350.1:p.Leu522Ile
XM_011522942.1:c.1564C>A	XP_011521244.1:p.Leu522Ile
XM_011522943.1:c.1564C>A	XP_011521245.1:p.Leu522Ile
XR_933239.1:n.2005C>A
XR_933240.1:n.2002C>A
XR_933241.1:n.1759C>A
NR_147928.1:n.2042C>A
NR_147929.1:n.1796C>A
XM_005256293.2:c.1564C>A	XP_005256350.1:p.Leu522Ile
XM_017023018.1:c.1564C>A	XP_016878507.1:p.Leu522Ile
XM_017023019.1:c.1564C>A	XP_016878508.1:p.Leu522Ile
XM_017023020.2:c.-3541C>A	XP_016878509.1:n.-3541C>A
XM_017023022.1:c.697C>A	XP_016878511.1:p.Leu233Ile
XM_024450186.1:c.769C>A	XP_024305954.1:p.Leu257Ile
XM_024450187.1:c.769C>A	XP_024305955.1:p.Leu257Ile
XR_001751864.2:n.1811C>A
XR_001751865.1:n.1758C>A
XR_933240.3:n.2001C>A
NM_001127214.4:c.1564C>A	NP_001120686.1:p.Leu522Ile
NM_001243279.3:c.1564C>A MANE Select	NP_001230208.1:p.Leu522Ile
NM_001284316.2:c.769C>A	NP_001271245.1:p.Leu257Ile
NM_174917.5:c.1564C>A	NP_777577.2:p.Leu522Ile
NR_104293.2:n.1955C>A
NR_147928.2:n.1999C>A
NR_147929.2:n.1753C>A