Canonical Allele Identifier: CA8238105

Gene: ACSF3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89133230G>A , CM000678.2:g.89133230G>A	GRCh38
NC_000016.9:g.89199638G>A , CM000678.1:g.89199638G>A	GRCh37
NC_000016.8:g.87727139G>A	NCBI36
NG_031961.1:g.44422G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001243279.3:c.1334G>A MANE Select	NP_001230208.1:p.Ser445Asn
ENST00000614302.5:c.1334G>A MANE Select	ENSP00000479130.1:p.Ser445Asn
NM_001127214.3:c.1334G>A	NP_001120686.1:p.Ser445Asn
NM_001127214.4:c.1334G>A	NP_001120686.1:p.Ser445Asn
NM_001243279.2:c.1334G>A	NP_001230208.1:p.Ser445Asn
NM_001284316.1:c.539G>A	NP_001271245.1:p.Ser180Asn
NM_001284316.2:c.539G>A	NP_001271245.1:p.Ser180Asn
NM_174917.4:c.1334G>A	NP_777577.2:p.Ser445Asn
NM_174917.5:c.1334G>A	NP_777577.2:p.Ser445Asn
NR_104293.1:n.1715G>A
NR_104293.2:n.1672G>A
NR_147928.1:n.1812G>A
NR_147928.2:n.1769G>A
NR_147929.1:n.1566G>A
NR_147929.2:n.1523G>A
ENST00000317447.8:c.1334G>A	ENSP00000320646.4:p.Ser445Asn
ENST00000317447.9:c.1334G>A	ENSP00000320646.4:p.Ser445Asn
ENST00000378345.8:c.539G>A	ENSP00000367596.4:p.Ser180Asn
ENST00000406948.7:c.1334G>A	ENSP00000384627.3:p.Ser445Asn
ENST00000540697.5:c.539G>A	ENSP00000445397.1:p.Ser180Asn
ENST00000542688.5:c.*78G>A	ENSP00000446281.1:n.*78G>A
ENST00000544543.5:c.539G>A	ENSP00000442781.1:p.Ser180Asn
ENST00000562204.1:n.254G>A
ENST00000614302.4:c.1334G>A	ENSP00000479130.1:p.Ser445Asn
ENST00000649953.1:c.1544G>A	ENSP00000497456.1:p.Ser515Asn
XM_005256293.1:c.1334G>A	XP_005256350.1:p.Ser445Asn
XM_005256293.2:c.1334G>A	XP_005256350.1:p.Ser445Asn
XM_011522942.1:c.1334G>A	XP_011521244.1:p.Ser445Asn
XM_011522943.1:c.1334G>A	XP_011521245.1:p.Ser445Asn
XM_017023018.1:c.1334G>A	XP_016878507.1:p.Ser445Asn
XM_017023019.1:c.1334G>A	XP_016878508.1:p.Ser445Asn
XM_017023020.2:c.-3824G>A	XP_016878509.1:n.-3824G>A
XM_017023021.1:c.1334G>A	XP_016878510.1:p.Ser445Asn
XM_017023022.1:c.467G>A	XP_016878511.1:p.Ser156Asn
XM_024450186.1:c.539G>A	XP_024305954.1:p.Ser180Asn
XM_024450187.1:c.539G>A	XP_024305955.1:p.Ser180Asn
XR_001751864.2:n.1528G>A
XR_001751865.1:n.1528G>A
XR_933238.1:n.1678G>A
XR_933238.2:n.1677G>A
XR_933239.1:n.1775G>A
XR_933240.1:n.1772G>A
XR_933240.3:n.1771G>A
XR_933241.1:n.1529G>A