Canonical Allele Identifier: CA397150435

Gene: ACSF3

Linked Data

• dbSNP Id: rs911570704
• gnomAD v4: 16-89154109-G-T
• MyVariant Identifiers: chr16:g.89220517G>T (hg19) ; chr16:g.89154109G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89154109G>T , CM000678.2:g.89154109G>T	GRCh38
NC_000016.9:g.89220517G>T , CM000678.1:g.89220517G>T	GRCh37
NC_000016.8:g.87748018G>T	NCBI36
NG_031961.1:g.65301G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317447.9:c.1633G>T	ENSP00000320646.4:p.Ala545Ser
ENST00000614302.5:c.1633G>T MANE Select	ENSP00000479130.1:p.Ala545Ser
ENST00000649953.1:c.1843G>T	ENSP00000497456.1:p.Ala615Ser
ENST00000317447.8:c.1633G>T	ENSP00000320646.4:p.Ala545Ser
ENST00000378345.8:c.838G>T	ENSP00000367596.4:p.Ala280Ser
ENST00000393145.5:n.6543G>T
ENST00000406948.7:c.1633G>T	ENSP00000384627.3:p.Ala545Ser
ENST00000537116.5:n.759G>T
ENST00000537155.1:n.373G>T
ENST00000542688.5:c.*377G>T	ENSP00000446281.1:n.*377G>T
ENST00000614302.4:c.1633G>T	ENSP00000479130.1:p.Ala545Ser
NM_001127214.3:c.1633G>T	NP_001120686.1:p.Ala545Ser
NM_001243279.2:c.1633G>T	NP_001230208.1:p.Ala545Ser
NM_001284316.1:c.838G>T	NP_001271245.1:p.Ala280Ser
NM_174917.4:c.1633G>T	NP_777577.2:p.Ala545Ser
NR_045667.2:n.759G>T
NR_104293.1:n.2067G>T
XR_933239.1:n.2074G>T
XR_933240.1:n.2071G>T
XR_933241.1:n.1828G>T
NR_147928.1:n.2111G>T
NR_147929.1:n.1865G>T
XM_017023020.2:c.-3472G>T	XP_016878509.1:n.-3472G>T
XM_024450187.1:c.838G>T	XP_024305955.1:p.Ala280Ser
XR_001751864.2:n.1880G>T
XR_933240.3:n.2070G>T
NM_001127214.4:c.1633G>T	NP_001120686.1:p.Ala545Ser
NM_001243279.3:c.1633G>T MANE Select	NP_001230208.1:p.Ala545Ser
NM_001284316.2:c.838G>T	NP_001271245.1:p.Ala280Ser
NM_174917.5:c.1633G>T	NP_777577.2:p.Ala545Ser
NR_104293.2:n.2024G>T
NR_147928.2:n.2068G>T
NR_147929.2:n.1822G>T