Canonical Allele Identifier: CA397148833

Gene: ACSF3

Linked Data

• MyVariant Identifiers: chr16:g.89212355T>A (hg19) ; chr16:g.89145947T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89145947T>A , CM000678.2:g.89145947T>A	GRCh38
NC_000016.9:g.89212355T>A , CM000678.1:g.89212355T>A	GRCh37
NC_000016.8:g.87739856T>A	NCBI36
NG_031961.1:g.57139T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000317447.9:c.1511T>A	ENSP00000320646.4:p.Val504Glu
ENST00000614302.5:c.1511T>A MANE Select	ENSP00000479130.1:p.Val504Glu
ENST00000649953.1:c.1721T>A	ENSP00000497456.1:p.Val574Glu
ENST00000317447.8:c.1511T>A	ENSP00000320646.4:p.Val504Glu
ENST00000378345.8:c.716T>A	ENSP00000367596.4:p.Val239Glu
ENST00000406948.7:c.1511T>A	ENSP00000384627.3:p.Val504Glu
ENST00000537116.5:n.637T>A
ENST00000537155.1:n.251T>A
ENST00000542688.5:c.*255T>A	ENSP00000446281.1:n.*255T>A
ENST00000562204.1:n.484T>A
ENST00000614302.4:c.1511T>A	ENSP00000479130.1:p.Val504Glu
NM_001127214.3:c.1511T>A	NP_001120686.1:p.Val504Glu
NM_001243279.2:c.1511T>A	NP_001230208.1:p.Val504Glu
NM_001284316.1:c.716T>A	NP_001271245.1:p.Val239Glu
NM_174917.4:c.1511T>A	NP_777577.2:p.Val504Glu
NR_045667.2:n.637T>A
NR_104293.1:n.1945T>A
XM_005256293.1:c.1511T>A	XP_005256350.1:p.Val504Glu
XM_011522942.1:c.1511T>A	XP_011521244.1:p.Val504Glu
XM_011522943.1:c.1511T>A	XP_011521245.1:p.Val504Glu
XR_933239.1:n.1952T>A
XR_933240.1:n.1949T>A
XR_933241.1:n.1706T>A
NR_147928.1:n.1989T>A
NR_147929.1:n.1743T>A
XM_005256293.2:c.1511T>A	XP_005256350.1:p.Val504Glu
XM_017023018.1:c.1511T>A	XP_016878507.1:p.Val504Glu
XM_017023019.1:c.1511T>A	XP_016878508.1:p.Val504Glu
XM_017023020.2:c.-3594T>A	XP_016878509.1:n.-3594T>A
XM_017023022.1:c.644T>A	XP_016878511.1:p.Val215Glu
XM_024450186.1:c.716T>A	XP_024305954.1:p.Val239Glu
XM_024450187.1:c.716T>A	XP_024305955.1:p.Val239Glu
XR_001751864.2:n.1758T>A
XR_001751865.1:n.1705T>A
XR_933240.3:n.1948T>A
NM_001127214.4:c.1511T>A	NP_001120686.1:p.Val504Glu
NM_001243279.3:c.1511T>A MANE Select	NP_001230208.1:p.Val504Glu
NM_001284316.2:c.716T>A	NP_001271245.1:p.Val239Glu
NM_174917.5:c.1511T>A	NP_777577.2:p.Val504Glu
NR_104293.2:n.1902T>A
NR_147928.2:n.1946T>A
NR_147929.2:n.1700T>A