Canonical Allele Identifier: CA497147180

Gene: ACSF3

Linked Data

• MyVariant Identifiers: chr16:g.89212410C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89146002C>G , CM000678.2:g.89146002C>G	GRCh38
NC_000016.9:g.89212410C>G , CM000678.1:g.89212410C>G	GRCh37
NC_000016.8:g.87739911C>G	NCBI36
NG_031961.1:g.57194C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317447.9:c.1566C>G	ENSP00000320646.4:p.Leu522=
ENST00000614302.5:c.1566C>G MANE Select	ENSP00000479130.1:p.Leu522=
ENST00000649953.1:c.1776C>G	ENSP00000497456.1:p.Leu592=
ENST00000317447.8:c.1566C>G	ENSP00000320646.4:p.Leu522=
ENST00000378345.8:c.771C>G	ENSP00000367596.4:p.Leu257=
ENST00000406948.7:c.1566C>G	ENSP00000384627.3:p.Leu522=
ENST00000535176.1:c.53C>G
ENST00000537116.5:n.692C>G
ENST00000537155.1:n.306C>G
ENST00000542688.5:c.*310C>G	ENSP00000446281.1:n.*310C>G
ENST00000562204.1:n.539C>G
ENST00000614302.4:c.1566C>G	ENSP00000479130.1:p.Leu522=
NM_001127214.3:c.1566C>G	NP_001120686.1:p.Leu522=
NM_001243279.2:c.1566C>G	NP_001230208.1:p.Leu522=
NM_001284316.1:c.771C>G	NP_001271245.1:p.Leu257=
NM_174917.4:c.1566C>G	NP_777577.2:p.Leu522=
NR_045667.2:n.692C>G
NR_104293.1:n.2000C>G
XM_005256293.1:c.1566C>G	XP_005256350.1:p.Leu522=
XM_011522942.1:c.1566C>G	XP_011521244.1:p.Leu522=
XM_011522943.1:c.1566C>G	XP_011521245.1:p.Leu522=
XR_933239.1:n.2007C>G
XR_933240.1:n.2004C>G
XR_933241.1:n.1761C>G
NR_147928.1:n.2044C>G
NR_147929.1:n.1798C>G
XM_005256293.2:c.1566C>G	XP_005256350.1:p.Leu522=
XM_017023018.1:c.1566C>G	XP_016878507.1:p.Leu522=
XM_017023019.1:c.1566C>G	XP_016878508.1:p.Leu522=
XM_017023020.2:c.-3539C>G	XP_016878509.1:n.-3539C>G
XM_017023022.1:c.699C>G	XP_016878511.1:p.Leu233=
XM_024450186.1:c.771C>G	XP_024305954.1:p.Leu257=
XM_024450187.1:c.771C>G	XP_024305955.1:p.Leu257=
XR_001751864.2:n.1813C>G
XR_001751865.1:n.1760C>G
XR_933240.3:n.2003C>G
NM_001127214.4:c.1566C>G	NP_001120686.1:p.Leu522=
NM_001243279.3:c.1566C>G MANE Select	NP_001230208.1:p.Leu522=
NM_001284316.2:c.771C>G	NP_001271245.1:p.Leu257=
NM_174917.5:c.1566C>G	NP_777577.2:p.Leu522=
NR_104293.2:n.1957C>G
NR_147928.2:n.2001C>G
NR_147929.2:n.1755C>G