Canonical Allele Identifier: CA397148233

Gene: ACSF3

Linked Data

• MyVariant Identifiers: chr16:g.89211792C>T (hg19) ; chr16:g.89145384C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89145384C>T , CM000678.2:g.89145384C>T	GRCh38
NC_000016.9:g.89211792C>T , CM000678.1:g.89211792C>T	GRCh37
NC_000016.8:g.87739293C>T	NCBI36
NG_031961.1:g.56576C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317447.9:c.1484C>T	ENSP00000320646.4:p.Ala495Val
ENST00000614302.5:c.1484C>T MANE Select	ENSP00000479130.1:p.Ala495Val
ENST00000649953.1:c.1694C>T	ENSP00000497456.1:p.Ala565Val
ENST00000317447.8:c.1484C>T	ENSP00000320646.4:p.Ala495Val
ENST00000378345.8:c.689C>T	ENSP00000367596.4:p.Ala230Val
ENST00000406948.7:c.1484C>T	ENSP00000384627.3:p.Ala495Val
ENST00000537116.5:n.610C>T
ENST00000537155.1:n.224C>T
ENST00000542688.5:c.*228C>T	ENSP00000446281.1:n.*228C>T
ENST00000544543.5:c.689C>T	ENSP00000442781.1:p.Ala230Val
ENST00000562204.1:n.457C>T
ENST00000614302.4:c.1484C>T	ENSP00000479130.1:p.Ala495Val
NM_001127214.3:c.1484C>T	NP_001120686.1:p.Ala495Val
NM_001243279.2:c.1484C>T	NP_001230208.1:p.Ala495Val
NM_001284316.1:c.689C>T	NP_001271245.1:p.Ala230Val
NM_174917.4:c.1484C>T	NP_777577.2:p.Ala495Val
NR_045667.2:n.610C>T
NR_104293.1:n.1918C>T
XM_005256293.1:c.1484C>T	XP_005256350.1:p.Ala495Val
XM_011522942.1:c.1484C>T	XP_011521244.1:p.Ala495Val
XM_011522943.1:c.1484C>T	XP_011521245.1:p.Ala495Val
XR_933239.1:n.1925C>T
XR_933240.1:n.1922C>T
XR_933241.1:n.1679C>T
NR_147928.1:n.1962C>T
NR_147929.1:n.1716C>T
XM_005256293.2:c.1484C>T	XP_005256350.1:p.Ala495Val
XM_017023018.1:c.1484C>T	XP_016878507.1:p.Ala495Val
XM_017023019.1:c.1484C>T	XP_016878508.1:p.Ala495Val
XM_017023020.2:c.-3621C>T	XP_016878509.1:n.-3621C>T
XM_017023022.1:c.617C>T	XP_016878511.1:p.Ala206Val
XM_024450186.1:c.689C>T	XP_024305954.1:p.Ala230Val
XM_024450187.1:c.689C>T	XP_024305955.1:p.Ala230Val
XR_001751864.2:n.1731C>T
XR_001751865.1:n.1678C>T
XR_933240.3:n.1921C>T
NM_001127214.4:c.1484C>T	NP_001120686.1:p.Ala495Val
NM_001243279.3:c.1484C>T MANE Select	NP_001230208.1:p.Ala495Val
NM_001284316.2:c.689C>T	NP_001271245.1:p.Ala230Val
NM_174917.5:c.1484C>T	NP_777577.2:p.Ala495Val
NR_104293.2:n.1875C>T
NR_147928.2:n.1919C>T
NR_147929.2:n.1673C>T