Canonical Allele Identifier: CA497148494

Gene: ACSF3

Linked Data

• dbSNP Id: rs1328443678
• gnomAD v2: 16-89220570-C-G
• MyVariant Identifiers: chr16:g.89220570C>G (hg19) ; chr16:g.89154162C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89154162C>G , CM000678.2:g.89154162C>G	GRCh38
NC_000016.9:g.89220570C>G , CM000678.1:g.89220570C>G	GRCh37
NC_000016.8:g.87748071C>G	NCBI36
NG_031961.1:g.65354C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317447.9:c.1686C>G	ENSP00000320646.4:p.Gly562=
ENST00000614302.5:c.1686C>G MANE Select	ENSP00000479130.1:p.Gly562=
ENST00000649953.1:c.1896C>G	ENSP00000497456.1:p.Gly632=
ENST00000317447.8:c.1686C>G	ENSP00000320646.4:p.Gly562=
ENST00000378345.8:c.891C>G	ENSP00000367596.4:p.Gly297=
ENST00000393145.5:n.6596C>G
ENST00000406948.7:c.1686C>G	ENSP00000384627.3:p.Gly562=
ENST00000537116.5:n.812C>G
ENST00000537155.1:n.426C>G
ENST00000542688.5:c.*430C>G	ENSP00000446281.1:n.*430C>G
ENST00000614302.4:c.1686C>G	ENSP00000479130.1:p.Gly562=
NM_001127214.3:c.1686C>G	NP_001120686.1:p.Gly562=
NM_001243279.2:c.1686C>G	NP_001230208.1:p.Gly562=
NM_001284316.1:c.891C>G	NP_001271245.1:p.Gly297=
NM_174917.4:c.1686C>G	NP_777577.2:p.Gly562=
NR_045667.2:n.812C>G
NR_104293.1:n.2120C>G
XR_933239.1:n.2127C>G
XR_933240.1:n.2124C>G
XR_933241.1:n.1881C>G
NR_147928.1:n.2164C>G
NR_147929.1:n.1918C>G
XM_017023020.2:c.-3419C>G	XP_016878509.1:n.-3419C>G
XM_024450187.1:c.891C>G	XP_024305955.1:p.Gly297=
XR_001751864.2:n.1933C>G
XR_933240.3:n.2123C>G
NM_001127214.4:c.1686C>G	NP_001120686.1:p.Gly562=
NM_001243279.3:c.1686C>G MANE Select	NP_001230208.1:p.Gly562=
NM_001284316.2:c.891C>G	NP_001271245.1:p.Gly297=
NM_174917.5:c.1686C>G	NP_777577.2:p.Gly562=
NR_104293.2:n.2077C>G
NR_147928.2:n.2121C>G
NR_147929.2:n.1875C>G