Canonical Allele Identifier: CA397150511

Gene: ACSF3

Linked Data

• MyVariant Identifiers: chr16:g.89220539T>A (hg19) ; chr16:g.89154131T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89154131T>A , CM000678.2:g.89154131T>A	GRCh38
NC_000016.9:g.89220539T>A , CM000678.1:g.89220539T>A	GRCh37
NC_000016.8:g.87748040T>A	NCBI36
NG_031961.1:g.65323T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317447.9:c.1655T>A	ENSP00000320646.4:p.Leu552Gln
ENST00000614302.5:c.1655T>A MANE Select	ENSP00000479130.1:p.Leu552Gln
ENST00000649953.1:c.1865T>A	ENSP00000497456.1:p.Leu622Gln
ENST00000317447.8:c.1655T>A	ENSP00000320646.4:p.Leu552Gln
ENST00000378345.8:c.860T>A	ENSP00000367596.4:p.Leu287Gln
ENST00000393145.5:n.6565T>A
ENST00000406948.7:c.1655T>A	ENSP00000384627.3:p.Leu552Gln
ENST00000537116.5:n.781T>A
ENST00000537155.1:n.395T>A
ENST00000542688.5:c.*399T>A	ENSP00000446281.1:n.*399T>A
ENST00000614302.4:c.1655T>A	ENSP00000479130.1:p.Leu552Gln
NM_001127214.3:c.1655T>A	NP_001120686.1:p.Leu552Gln
NM_001243279.2:c.1655T>A	NP_001230208.1:p.Leu552Gln
NM_001284316.1:c.860T>A	NP_001271245.1:p.Leu287Gln
NM_174917.4:c.1655T>A	NP_777577.2:p.Leu552Gln
NR_045667.2:n.781T>A
NR_104293.1:n.2089T>A
XR_933239.1:n.2096T>A
XR_933240.1:n.2093T>A
XR_933241.1:n.1850T>A
NR_147928.1:n.2133T>A
NR_147929.1:n.1887T>A
XM_017023020.2:c.-3450T>A	XP_016878509.1:n.-3450T>A
XM_024450187.1:c.860T>A	XP_024305955.1:p.Leu287Gln
XR_001751864.2:n.1902T>A
XR_933240.3:n.2092T>A
NM_001127214.4:c.1655T>A	NP_001120686.1:p.Leu552Gln
NM_001243279.3:c.1655T>A MANE Select	NP_001230208.1:p.Leu552Gln
NM_001284316.2:c.860T>A	NP_001271245.1:p.Leu287Gln
NM_174917.5:c.1655T>A	NP_777577.2:p.Leu552Gln
NR_104293.2:n.2046T>A
NR_147928.2:n.2090T>A
NR_147929.2:n.1844T>A