Canonical Allele Identifier: CA397148185

Gene: ACSF3

Linked Data

• MyVariant Identifiers: chr16:g.89211768T>A (hg19) ; chr16:g.89145360T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89145360T>A , CM000678.2:g.89145360T>A	GRCh38
NC_000016.9:g.89211768T>A , CM000678.1:g.89211768T>A	GRCh37
NC_000016.8:g.87739269T>A	NCBI36
NG_031961.1:g.56552T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317447.9:c.1460T>A	ENSP00000320646.4:p.Leu487Gln
ENST00000614302.5:c.1460T>A MANE Select	ENSP00000479130.1:p.Leu487Gln
ENST00000649953.1:c.1670T>A	ENSP00000497456.1:p.Leu557Gln
ENST00000317447.8:c.1460T>A	ENSP00000320646.4:p.Leu487Gln
ENST00000378345.8:c.665T>A	ENSP00000367596.4:p.Leu222Gln
ENST00000406948.7:c.1460T>A	ENSP00000384627.3:p.Leu487Gln
ENST00000537116.5:n.586T>A
ENST00000537155.1:n.200T>A
ENST00000542688.5:c.*204T>A	ENSP00000446281.1:n.*204T>A
ENST00000544543.5:c.665T>A	ENSP00000442781.1:p.Leu222Gln
ENST00000562204.1:n.433T>A
ENST00000614302.4:c.1460T>A	ENSP00000479130.1:p.Leu487Gln
NM_001127214.3:c.1460T>A	NP_001120686.1:p.Leu487Gln
NM_001243279.2:c.1460T>A	NP_001230208.1:p.Leu487Gln
NM_001284316.1:c.665T>A	NP_001271245.1:p.Leu222Gln
NM_174917.4:c.1460T>A	NP_777577.2:p.Leu487Gln
NR_045667.2:n.586T>A
NR_104293.1:n.1894T>A
XM_005256293.1:c.1460T>A	XP_005256350.1:p.Leu487Gln
XM_011522942.1:c.1460T>A	XP_011521244.1:p.Leu487Gln
XM_011522943.1:c.1460T>A	XP_011521245.1:p.Leu487Gln
XR_933239.1:n.1901T>A
XR_933240.1:n.1898T>A
XR_933241.1:n.1655T>A
NR_147928.1:n.1938T>A
NR_147929.1:n.1692T>A
XM_005256293.2:c.1460T>A	XP_005256350.1:p.Leu487Gln
XM_017023018.1:c.1460T>A	XP_016878507.1:p.Leu487Gln
XM_017023019.1:c.1460T>A	XP_016878508.1:p.Leu487Gln
XM_017023020.2:c.-3645T>A	XP_016878509.1:n.-3645T>A
XM_017023022.1:c.593T>A	XP_016878511.1:p.Leu198Gln
XM_024450186.1:c.665T>A	XP_024305954.1:p.Leu222Gln
XM_024450187.1:c.665T>A	XP_024305955.1:p.Leu222Gln
XR_001751864.2:n.1707T>A
XR_001751865.1:n.1654T>A
XR_933240.3:n.1897T>A
NM_001127214.4:c.1460T>A	NP_001120686.1:p.Leu487Gln
NM_001243279.3:c.1460T>A MANE Select	NP_001230208.1:p.Leu487Gln
NM_001284316.2:c.665T>A	NP_001271245.1:p.Leu222Gln
NM_174917.5:c.1460T>A	NP_777577.2:p.Leu487Gln
NR_104293.2:n.1851T>A
NR_147928.2:n.1895T>A
NR_147929.2:n.1649T>A