Canonical Allele Identifier: CA397150885

Gene: ACSF3

Linked Data

• gnomAD v4: 16-89154188-G-A
• MyVariant Identifiers: chr16:g.89220596G>A (hg19) ; chr16:g.89154188G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89154188G>A , CM000678.2:g.89154188G>A	GRCh38
NC_000016.9:g.89220596G>A , CM000678.1:g.89220596G>A	GRCh37
NC_000016.8:g.87748097G>A	NCBI36
NG_031961.1:g.65380G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317447.9:c.1712G>A	ENSP00000320646.4:p.Arg571Lys
ENST00000614302.5:c.1712G>A MANE Select	ENSP00000479130.1:p.Arg571Lys
ENST00000649953.1:c.1922G>A	ENSP00000497456.1:p.Arg641Lys
ENST00000317447.8:c.1712G>A	ENSP00000320646.4:p.Arg571Lys
ENST00000378345.8:c.917G>A	ENSP00000367596.4:p.Arg306Lys
ENST00000393145.5:n.6622G>A
ENST00000406948.7:c.1712G>A	ENSP00000384627.3:p.Arg571Lys
ENST00000537116.5:n.838G>A
ENST00000537155.1:n.452G>A
ENST00000542688.5:c.*456G>A	ENSP00000446281.1:n.*456G>A
ENST00000614302.4:c.1712G>A	ENSP00000479130.1:p.Arg571Lys
NM_001127214.3:c.1712G>A	NP_001120686.1:p.Arg571Lys
NM_001243279.2:c.1712G>A	NP_001230208.1:p.Arg571Lys
NM_001284316.1:c.917G>A	NP_001271245.1:p.Arg306Lys
NM_174917.4:c.1712G>A	NP_777577.2:p.Arg571Lys
NR_045667.2:n.838G>A
NR_104293.1:n.2146G>A
XR_933239.1:n.2153G>A
XR_933240.1:n.2150G>A
XR_933241.1:n.1907G>A
NR_147928.1:n.2190G>A
NR_147929.1:n.1944G>A
XM_017023020.2:c.-3393G>A	XP_016878509.1:n.-3393G>A
XM_024450187.1:c.917G>A	XP_024305955.1:p.Arg306Lys
XR_001751864.2:n.1959G>A
XR_933240.3:n.2149G>A
NM_001127214.4:c.1712G>A	NP_001120686.1:p.Arg571Lys
NM_001243279.3:c.1712G>A MANE Select	NP_001230208.1:p.Arg571Lys
NM_001284316.2:c.917G>A	NP_001271245.1:p.Arg306Lys
NM_174917.5:c.1712G>A	NP_777577.2:p.Arg571Lys
NR_104293.2:n.2103G>A
NR_147928.2:n.2147G>A
NR_147929.2:n.1901G>A