Canonical Allele Identifier: CA397150621

Gene: ACSF3

Linked Data

• dbSNP Id: rs141090143
• gnomAD v4: 16-89154148-C-G
• MyVariant Identifiers: chr16:g.89220556C>G (hg19) ; chr16:g.89154148C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89154148C>G , CM000678.2:g.89154148C>G	GRCh38
NC_000016.9:g.89220556C>G , CM000678.1:g.89220556C>G	GRCh37
NC_000016.8:g.87748057C>G	NCBI36
NG_031961.1:g.65340C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000317447.9:c.1672C>G	ENSP00000320646.4:p.Arg558Gly
ENST00000614302.5:c.1672C>G MANE Select	ENSP00000479130.1:p.Arg558Gly
ENST00000649953.1:c.1882C>G	ENSP00000497456.1:p.Arg628Gly
ENST00000317447.8:c.1672C>G	ENSP00000320646.4:p.Arg558Gly
ENST00000378345.8:c.877C>G	ENSP00000367596.4:p.Arg293Gly
ENST00000393145.5:n.6582C>G
ENST00000406948.7:c.1672C>G	ENSP00000384627.3:p.Arg558Gly
ENST00000537116.5:n.798C>G
ENST00000537155.1:n.412C>G
ENST00000542688.5:c.*416C>G	ENSP00000446281.1:n.*416C>G
ENST00000614302.4:c.1672C>G	ENSP00000479130.1:p.Arg558Gly
NM_001127214.3:c.1672C>G	NP_001120686.1:p.Arg558Gly
NM_001243279.2:c.1672C>G	NP_001230208.1:p.Arg558Gly
NM_001284316.1:c.877C>G	NP_001271245.1:p.Arg293Gly
NM_174917.4:c.1672C>G	NP_777577.2:p.Arg558Gly
NR_045667.2:n.798C>G
NR_104293.1:n.2106C>G
XR_933239.1:n.2113C>G
XR_933240.1:n.2110C>G
XR_933241.1:n.1867C>G
NR_147928.1:n.2150C>G
NR_147929.1:n.1904C>G
XM_017023020.2:c.-3433C>G	XP_016878509.1:n.-3433C>G
XM_024450187.1:c.877C>G	XP_024305955.1:p.Arg293Gly
XR_001751864.2:n.1919C>G
XR_933240.3:n.2109C>G
NM_001127214.4:c.1672C>G	NP_001120686.1:p.Arg558Gly
NM_001243279.3:c.1672C>G MANE Select	NP_001230208.1:p.Arg558Gly
NM_001284316.2:c.877C>G	NP_001271245.1:p.Arg293Gly
NM_174917.5:c.1672C>G	NP_777577.2:p.Arg558Gly
NR_104293.2:n.2063C>G
NR_147928.2:n.2107C>G
NR_147929.2:n.1861C>G