Canonical Allele Identifier: CA397149077

Gene: ACSF3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89146009G>T , CM000678.2:g.89146009G>T	GRCh38
NC_000016.9:g.89212417G>T , CM000678.1:g.89212417G>T	GRCh37
NC_000016.8:g.87739918G>T	NCBI36
NG_031961.1:g.57201G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001243279.3:c.1573G>T MANE Select	NP_001230208.1:p.Gly525Ter
ENST00000614302.5:c.1573G>T MANE Select	ENSP00000479130.1:p.Gly525Ter
NM_001127214.3:c.1573G>T	NP_001120686.1:p.Gly525Ter
NM_001127214.4:c.1573G>T	NP_001120686.1:p.Gly525Ter
NM_001243279.2:c.1573G>T	NP_001230208.1:p.Gly525Ter
NM_001284316.1:c.778G>T	NP_001271245.1:p.Gly260Ter
NM_001284316.2:c.778G>T	NP_001271245.1:p.Gly260Ter
NM_174917.4:c.1573G>T	NP_777577.2:p.Gly525Ter
NM_174917.5:c.1573G>T	NP_777577.2:p.Gly525Ter
NR_045667.2:n.699G>T
NR_104293.1:n.2007G>T
NR_104293.2:n.1964G>T
NR_147928.1:n.2051G>T
NR_147928.2:n.2008G>T
NR_147929.1:n.1805G>T
NR_147929.2:n.1762G>T
ENST00000317447.8:c.1573G>T	ENSP00000320646.4:p.Gly525Ter
ENST00000317447.9:c.1573G>T	ENSP00000320646.4:p.Gly525Ter
ENST00000378345.8:c.778G>T	ENSP00000367596.4:p.Gly260Ter
ENST00000406948.7:c.1573G>T	ENSP00000384627.3:p.Gly525Ter
ENST00000535176.1:c.60G>T
ENST00000537116.5:n.699G>T
ENST00000537155.1:n.313G>T
ENST00000542688.5:c.*317G>T	ENSP00000446281.1:n.*317G>T
ENST00000562204.1:n.546G>T
ENST00000614302.4:c.1573G>T	ENSP00000479130.1:p.Gly525Ter
ENST00000649953.1:c.1783G>T	ENSP00000497456.1:p.Gly595Ter
XM_005256293.1:c.1573G>T	XP_005256350.1:p.Gly525Ter
XM_005256293.2:c.1573G>T	XP_005256350.1:p.Gly525Ter
XM_011522942.1:c.1573G>T	XP_011521244.1:p.Gly525Ter
XM_011522943.1:c.1573G>T	XP_011521245.1:p.Gly525Ter
XM_017023018.1:c.1573G>T	XP_016878507.1:p.Gly525Ter
XM_017023019.1:c.1573G>T	XP_016878508.1:p.Gly525Ter
XM_017023020.2:c.-3532G>T	XP_016878509.1:n.-3532G>T
XM_017023022.1:c.706G>T	XP_016878511.1:p.Gly236Ter
XM_024450186.1:c.778G>T	XP_024305954.1:p.Gly260Ter
XM_024450187.1:c.778G>T	XP_024305955.1:p.Gly260Ter
XR_001751864.2:n.1820G>T
XR_001751865.1:n.1767G>T
XR_933239.1:n.2014G>T
XR_933240.1:n.2011G>T
XR_933240.3:n.2010G>T
XR_933241.1:n.1768G>T