Canonical Allele Identifier: CA397149012

Gene: ACSF3

Linked Data

• gnomAD v4: 16-89145991-G-T
• COSMIC: COSM6358410
• MyVariant Identifiers: chr16:g.89212399G>T (hg19) ; chr16:g.89145991G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89145991G>T , CM000678.2:g.89145991G>T	GRCh38
NC_000016.9:g.89212399G>T , CM000678.1:g.89212399G>T	GRCh37
NC_000016.8:g.87739900G>T	NCBI36
NG_031961.1:g.57183G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317447.9:c.1555G>T	ENSP00000320646.4:p.Val519Leu
ENST00000614302.5:c.1555G>T MANE Select	ENSP00000479130.1:p.Val519Leu
ENST00000649953.1:c.1765G>T	ENSP00000497456.1:p.Val589Leu
ENST00000317447.8:c.1555G>T	ENSP00000320646.4:p.Val519Leu
ENST00000378345.8:c.760G>T	ENSP00000367596.4:p.Val254Leu
ENST00000406948.7:c.1555G>T	ENSP00000384627.3:p.Val519Leu
ENST00000535176.1:c.42G>T
ENST00000537116.5:n.681G>T
ENST00000537155.1:n.295G>T
ENST00000542688.5:c.*299G>T	ENSP00000446281.1:n.*299G>T
ENST00000562204.1:n.528G>T
ENST00000614302.4:c.1555G>T	ENSP00000479130.1:p.Val519Leu
NM_001127214.3:c.1555G>T	NP_001120686.1:p.Val519Leu
NM_001243279.2:c.1555G>T	NP_001230208.1:p.Val519Leu
NM_001284316.1:c.760G>T	NP_001271245.1:p.Val254Leu
NM_174917.4:c.1555G>T	NP_777577.2:p.Val519Leu
NR_045667.2:n.681G>T
NR_104293.1:n.1989G>T
XM_005256293.1:c.1555G>T	XP_005256350.1:p.Val519Leu
XM_011522942.1:c.1555G>T	XP_011521244.1:p.Val519Leu
XM_011522943.1:c.1555G>T	XP_011521245.1:p.Val519Leu
XR_933239.1:n.1996G>T
XR_933240.1:n.1993G>T
XR_933241.1:n.1750G>T
NR_147928.1:n.2033G>T
NR_147929.1:n.1787G>T
XM_005256293.2:c.1555G>T	XP_005256350.1:p.Val519Leu
XM_017023018.1:c.1555G>T	XP_016878507.1:p.Val519Leu
XM_017023019.1:c.1555G>T	XP_016878508.1:p.Val519Leu
XM_017023020.2:c.-3550G>T	XP_016878509.1:n.-3550G>T
XM_017023022.1:c.688G>T	XP_016878511.1:p.Val230Leu
XM_024450186.1:c.760G>T	XP_024305954.1:p.Val254Leu
XM_024450187.1:c.760G>T	XP_024305955.1:p.Val254Leu
XR_001751864.2:n.1802G>T
XR_001751865.1:n.1749G>T
XR_933240.3:n.1992G>T
NM_001127214.4:c.1555G>T	NP_001120686.1:p.Val519Leu
NM_001243279.3:c.1555G>T MANE Select	NP_001230208.1:p.Val519Leu
NM_001284316.2:c.760G>T	NP_001271245.1:p.Val254Leu
NM_174917.5:c.1555G>T	NP_777577.2:p.Val519Leu
NR_104293.2:n.1946G>T
NR_147928.2:n.1990G>T
NR_147929.2:n.1744G>T