Canonical Allele Identifier: CA397148222

Gene: ACSF3

Linked Data

• MyVariant Identifiers: chr16:g.89211786T>A (hg19) ; chr16:g.89145378T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89145378T>A , CM000678.2:g.89145378T>A	GRCh38
NC_000016.9:g.89211786T>A , CM000678.1:g.89211786T>A	GRCh37
NC_000016.8:g.87739287T>A	NCBI36
NG_031961.1:g.56570T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317447.9:c.1478T>A	ENSP00000320646.4:p.Leu493Gln
ENST00000614302.5:c.1478T>A MANE Select	ENSP00000479130.1:p.Leu493Gln
ENST00000649953.1:c.1688T>A	ENSP00000497456.1:p.Leu563Gln
ENST00000317447.8:c.1478T>A	ENSP00000320646.4:p.Leu493Gln
ENST00000378345.8:c.683T>A	ENSP00000367596.4:p.Leu228Gln
ENST00000406948.7:c.1478T>A	ENSP00000384627.3:p.Leu493Gln
ENST00000537116.5:n.604T>A
ENST00000537155.1:n.218T>A
ENST00000542688.5:c.*222T>A	ENSP00000446281.1:n.*222T>A
ENST00000544543.5:c.683T>A	ENSP00000442781.1:p.Leu228Gln
ENST00000562204.1:n.451T>A
ENST00000614302.4:c.1478T>A	ENSP00000479130.1:p.Leu493Gln
NM_001127214.3:c.1478T>A	NP_001120686.1:p.Leu493Gln
NM_001243279.2:c.1478T>A	NP_001230208.1:p.Leu493Gln
NM_001284316.1:c.683T>A	NP_001271245.1:p.Leu228Gln
NM_174917.4:c.1478T>A	NP_777577.2:p.Leu493Gln
NR_045667.2:n.604T>A
NR_104293.1:n.1912T>A
XM_005256293.1:c.1478T>A	XP_005256350.1:p.Leu493Gln
XM_011522942.1:c.1478T>A	XP_011521244.1:p.Leu493Gln
XM_011522943.1:c.1478T>A	XP_011521245.1:p.Leu493Gln
XR_933239.1:n.1919T>A
XR_933240.1:n.1916T>A
XR_933241.1:n.1673T>A
NR_147928.1:n.1956T>A
NR_147929.1:n.1710T>A
XM_005256293.2:c.1478T>A	XP_005256350.1:p.Leu493Gln
XM_017023018.1:c.1478T>A	XP_016878507.1:p.Leu493Gln
XM_017023019.1:c.1478T>A	XP_016878508.1:p.Leu493Gln
XM_017023020.2:c.-3627T>A	XP_016878509.1:n.-3627T>A
XM_017023022.1:c.611T>A	XP_016878511.1:p.Leu204Gln
XM_024450186.1:c.683T>A	XP_024305954.1:p.Leu228Gln
XM_024450187.1:c.683T>A	XP_024305955.1:p.Leu228Gln
XR_001751864.2:n.1725T>A
XR_001751865.1:n.1672T>A
XR_933240.3:n.1915T>A
NM_001127214.4:c.1478T>A	NP_001120686.1:p.Leu493Gln
NM_001243279.3:c.1478T>A MANE Select	NP_001230208.1:p.Leu493Gln
NM_001284316.2:c.683T>A	NP_001271245.1:p.Leu228Gln
NM_174917.5:c.1478T>A	NP_777577.2:p.Leu493Gln
NR_104293.2:n.1869T>A
NR_147928.2:n.1913T>A
NR_147929.2:n.1667T>A