Canonical Allele Identifier: CA397149022

Gene: ACSF3

Linked Data

• MyVariant Identifiers: chr16:g.89212402G>C (hg19) ; chr16:g.89145994G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89145994G>C , CM000678.2:g.89145994G>C	GRCh38
NC_000016.9:g.89212402G>C , CM000678.1:g.89212402G>C	GRCh37
NC_000016.8:g.87739903G>C	NCBI36
NG_031961.1:g.57186G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317447.9:c.1558G>C	ENSP00000320646.4:p.Val520Leu
ENST00000614302.5:c.1558G>C MANE Select	ENSP00000479130.1:p.Val520Leu
ENST00000649953.1:c.1768G>C	ENSP00000497456.1:p.Val590Leu
ENST00000317447.8:c.1558G>C	ENSP00000320646.4:p.Val520Leu
ENST00000378345.8:c.763G>C	ENSP00000367596.4:p.Val255Leu
ENST00000406948.7:c.1558G>C	ENSP00000384627.3:p.Val520Leu
ENST00000535176.1:c.45G>C
ENST00000537116.5:n.684G>C
ENST00000537155.1:n.298G>C
ENST00000542688.5:c.*302G>C	ENSP00000446281.1:n.*302G>C
ENST00000562204.1:n.531G>C
ENST00000614302.4:c.1558G>C	ENSP00000479130.1:p.Val520Leu
NM_001127214.3:c.1558G>C	NP_001120686.1:p.Val520Leu
NM_001243279.2:c.1558G>C	NP_001230208.1:p.Val520Leu
NM_001284316.1:c.763G>C	NP_001271245.1:p.Val255Leu
NM_174917.4:c.1558G>C	NP_777577.2:p.Val520Leu
NR_045667.2:n.684G>C
NR_104293.1:n.1992G>C
XM_005256293.1:c.1558G>C	XP_005256350.1:p.Val520Leu
XM_011522942.1:c.1558G>C	XP_011521244.1:p.Val520Leu
XM_011522943.1:c.1558G>C	XP_011521245.1:p.Val520Leu
XR_933239.1:n.1999G>C
XR_933240.1:n.1996G>C
XR_933241.1:n.1753G>C
NR_147928.1:n.2036G>C
NR_147929.1:n.1790G>C
XM_005256293.2:c.1558G>C	XP_005256350.1:p.Val520Leu
XM_017023018.1:c.1558G>C	XP_016878507.1:p.Val520Leu
XM_017023019.1:c.1558G>C	XP_016878508.1:p.Val520Leu
XM_017023020.2:c.-3547G>C	XP_016878509.1:n.-3547G>C
XM_017023022.1:c.691G>C	XP_016878511.1:p.Val231Leu
XM_024450186.1:c.763G>C	XP_024305954.1:p.Val255Leu
XM_024450187.1:c.763G>C	XP_024305955.1:p.Val255Leu
XR_001751864.2:n.1805G>C
XR_001751865.1:n.1752G>C
XR_933240.3:n.1995G>C
NM_001127214.4:c.1558G>C	NP_001120686.1:p.Val520Leu
NM_001243279.3:c.1558G>C MANE Select	NP_001230208.1:p.Val520Leu
NM_001284316.2:c.763G>C	NP_001271245.1:p.Val255Leu
NM_174917.5:c.1558G>C	NP_777577.2:p.Val520Leu
NR_104293.2:n.1949G>C
NR_147928.2:n.1993G>C
NR_147929.2:n.1747G>C