Canonical Allele Identifier: CA397149110

Gene: ACSF3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89146016C>G , CM000678.2:g.89146016C>G	GRCh38
NC_000016.9:g.89212424C>G , CM000678.1:g.89212424C>G	GRCh37
NC_000016.8:g.87739925C>G	NCBI36
NG_031961.1:g.57208C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001243279.3:c.1580C>G MANE Select	NP_001230208.1:p.Ser527Ter
ENST00000614302.5:c.1580C>G MANE Select	ENSP00000479130.1:p.Ser527Ter
NM_001127214.3:c.1580C>G	NP_001120686.1:p.Ser527Ter
NM_001127214.4:c.1580C>G	NP_001120686.1:p.Ser527Ter
NM_001243279.2:c.1580C>G	NP_001230208.1:p.Ser527Ter
NM_001284316.1:c.785C>G	NP_001271245.1:p.Ser262Ter
NM_001284316.2:c.785C>G	NP_001271245.1:p.Ser262Ter
NM_174917.4:c.1580C>G	NP_777577.2:p.Ser527Ter
NM_174917.5:c.1580C>G	NP_777577.2:p.Ser527Ter
NR_045667.2:n.706C>G
NR_104293.1:n.2014C>G
NR_104293.2:n.1971C>G
NR_147928.1:n.2058C>G
NR_147928.2:n.2015C>G
NR_147929.1:n.1812C>G
NR_147929.2:n.1769C>G
ENST00000317447.8:c.1580C>G	ENSP00000320646.4:p.Ser527Ter
ENST00000317447.9:c.1580C>G	ENSP00000320646.4:p.Ser527Ter
ENST00000378345.8:c.785C>G	ENSP00000367596.4:p.Ser262Ter
ENST00000406948.7:c.1580C>G	ENSP00000384627.3:p.Ser527Ter
ENST00000535176.1:c.67C>G
ENST00000537116.5:n.706C>G
ENST00000537155.1:n.320C>G
ENST00000542688.5:c.*324C>G	ENSP00000446281.1:n.*324C>G
ENST00000562204.1:n.553C>G
ENST00000614302.4:c.1580C>G	ENSP00000479130.1:p.Ser527Ter
ENST00000649953.1:c.1790C>G	ENSP00000497456.1:p.Ser597Ter
XM_005256293.1:c.1580C>G	XP_005256350.1:p.Ser527Ter
XM_005256293.2:c.1580C>G	XP_005256350.1:p.Ser527Ter
XM_011522942.1:c.1580C>G	XP_011521244.1:p.Ser527Ter
XM_011522943.1:c.1580C>G	XP_011521245.1:p.Ser527Ter
XM_017023018.1:c.1580C>G	XP_016878507.1:p.Ser527Ter
XM_017023019.1:c.1580C>G	XP_016878508.1:p.Ser527Ter
XM_017023020.2:c.-3525C>G	XP_016878509.1:n.-3525C>G
XM_017023022.1:c.713C>G	XP_016878511.1:p.Ser238Ter
XM_024450186.1:c.785C>G	XP_024305954.1:p.Ser262Ter
XM_024450187.1:c.785C>G	XP_024305955.1:p.Ser262Ter
XR_001751864.2:n.1827C>G
XR_001751865.1:n.1774C>G
XR_933239.1:n.2021C>G
XR_933240.1:n.2018C>G
XR_933240.3:n.2017C>G
XR_933241.1:n.1775C>G