Canonical Allele Identifier: CA312303

Gene: ACSF3

Linked Data

• ClinVar Variation Id: 203602
• ClinVar RCV Id: RCV000185750
• dbSNP Id: rs796051922
• MyVariant Identifiers: chr16:g.89212400T>G (hg19) ; chr16:g.89145992T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89145992T>G , CM000678.2:g.89145992T>G	GRCh38
NC_000016.9:g.89212400T>G , CM000678.1:g.89212400T>G	GRCh37
NC_000016.8:g.87739901T>G	NCBI36
NG_031961.1:g.57184T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317447.9:c.1556T>G	ENSP00000320646.4:p.Val519Gly
ENST00000614302.5:c.1556T>G MANE Select	ENSP00000479130.1:p.Val519Gly
ENST00000649953.1:c.1766T>G	ENSP00000497456.1:p.Val589Gly
ENST00000317447.8:c.1556T>G	ENSP00000320646.4:p.Val519Gly
ENST00000378345.8:c.761T>G	ENSP00000367596.4:p.Val254Gly
ENST00000406948.7:c.1556T>G	ENSP00000384627.3:p.Val519Gly
ENST00000535176.1:c.43T>G
ENST00000537116.5:n.682T>G
ENST00000537155.1:n.296T>G
ENST00000542688.5:c.*300T>G	ENSP00000446281.1:n.*300T>G
ENST00000562204.1:n.529T>G
ENST00000614302.4:c.1556T>G	ENSP00000479130.1:p.Val519Gly
NM_001127214.3:c.1556T>G	NP_001120686.1:p.Val519Gly
NM_001243279.2:c.1556T>G	NP_001230208.1:p.Val519Gly
NM_001284316.1:c.761T>G	NP_001271245.1:p.Val254Gly
NM_174917.4:c.1556T>G	NP_777577.2:p.Val519Gly
NR_045667.2:n.682T>G
NR_104293.1:n.1990T>G
XM_005256293.1:c.1556T>G	XP_005256350.1:p.Val519Gly
XM_011522942.1:c.1556T>G	XP_011521244.1:p.Val519Gly
XM_011522943.1:c.1556T>G	XP_011521245.1:p.Val519Gly
XR_933239.1:n.1997T>G
XR_933240.1:n.1994T>G
XR_933241.1:n.1751T>G
NR_147928.1:n.2034T>G
NR_147929.1:n.1788T>G
XM_005256293.2:c.1556T>G	XP_005256350.1:p.Val519Gly
XM_017023018.1:c.1556T>G	XP_016878507.1:p.Val519Gly
XM_017023019.1:c.1556T>G	XP_016878508.1:p.Val519Gly
XM_017023020.2:c.-3549T>G	XP_016878509.1:n.-3549T>G
XM_017023022.1:c.689T>G	XP_016878511.1:p.Val230Gly
XM_024450186.1:c.761T>G	XP_024305954.1:p.Val254Gly
XM_024450187.1:c.761T>G	XP_024305955.1:p.Val254Gly
XR_001751864.2:n.1803T>G
XR_001751865.1:n.1750T>G
XR_933240.3:n.1993T>G
NM_001127214.4:c.1556T>G	NP_001120686.1:p.Val519Gly
NM_001243279.3:c.1556T>G MANE Select	NP_001230208.1:p.Val519Gly
NM_001284316.2:c.761T>G	NP_001271245.1:p.Val254Gly
NM_174917.5:c.1556T>G	NP_777577.2:p.Val519Gly
NR_104293.2:n.1947T>G
NR_147928.2:n.1991T>G
NR_147929.2:n.1745T>G