Canonical Allele Identifier: CA2634921026

Gene: ACSF3

Linked Data

• gnomAD v4: 16-89146174-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89146174G>T , CM000678.2:g.89146174G>T	GRCh38
NC_000016.9:g.89212582G>T , CM000678.1:g.89212582G>T	GRCh37
NC_000016.8:g.87740083G>T	NCBI36
NG_031961.1:g.57366G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317447.9:c.1613+125G>T	ENSP00000320646.4:n.1613+125G>T
ENST00000614302.5:c.1613+125G>T MANE Select	ENSP00000479130.1:n.1613+125G>T
ENST00000649953.1:c.1823+125G>T	ENSP00000497456.1:n.1823+125G>T
ENST00000317447.8:c.1613+125G>T	ENSP00000320646.4:n.1613+125G>T
ENST00000378345.8:c.818+125G>T	ENSP00000367596.4:n.818+125G>T
ENST00000406948.7:c.1613+125G>T	ENSP00000384627.3:n.1613+125G>T
ENST00000535176.1:c.100+125G>T
ENST00000537116.5:n.739+125G>T
ENST00000537155.1:n.353+125G>T
ENST00000542688.5:c.*357+125G>T	ENSP00000446281.1:n.*357+125G>T
ENST00000614302.4:c.1613+125G>T	ENSP00000479130.1:n.1613+125G>T
NM_001127214.3:c.1613+125G>T	NP_001120686.1:n.1613+125G>T
NM_001243279.2:c.1613+125G>T	NP_001230208.1:n.1613+125G>T
NM_001284316.1:c.818+125G>T	NP_001271245.1:n.818+125G>T
NM_174917.4:c.1613+125G>T	NP_777577.2:n.1613+125G>T
NR_045667.2:n.739+125G>T
NR_104293.1:n.2047+125G>T
XM_005256293.1:c.1613+125G>T	XP_005256350.1:n.1613+125G>T
XM_011522942.1:c.1613+125G>T	XP_011521244.1:n.1613+125G>T
XM_011522943.1:c.1613+125G>T	XP_011521245.1:n.1613+125G>T
XR_933239.1:n.2054+125G>T
XR_933240.1:n.2051+125G>T
XR_933241.1:n.1808+125G>T
NR_147928.1:n.2091+125G>T
NR_147929.1:n.1845+125G>T
XM_005256293.2:c.1613+125G>T	XP_005256350.1:n.1613+125G>T
XM_017023018.1:c.1613+125G>T	XP_016878507.1:n.1613+125G>T
XM_017023019.1:c.1613+125G>T	XP_016878508.1:n.1613+125G>T
XM_017023020.2:c.-3492+125G>T	XP_016878509.1:n.-3492+125G>T
XM_017023022.1:c.746+125G>T	XP_016878511.1:n.746+125G>T
XM_024450186.1:c.818+125G>T	XP_024305954.1:n.818+125G>T
XM_024450187.1:c.818+125G>T	XP_024305955.1:n.818+125G>T
XR_001751864.2:n.1860+125G>T
XR_001751865.1:n.1807+125G>T
XR_933240.3:n.2050+125G>T
NM_001127214.4:c.1613+125G>T	NP_001120686.1:n.1613+125G>T
NM_001243279.3:c.1613+125G>T MANE Select	NP_001230208.1:n.1613+125G>T
NM_001284316.2:c.818+125G>T	NP_001271245.1:n.818+125G>T
NM_174917.5:c.1613+125G>T	NP_777577.2:n.1613+125G>T
NR_104293.2:n.2004+125G>T
NR_147928.2:n.2048+125G>T
NR_147929.2:n.1802+125G>T