Canonical Allele Identifier: CA2634920915

Gene: ACSF3

Linked Data

• gnomAD v4: 16-89146081-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89146081C>G , CM000678.2:g.89146081C>G	GRCh38
NC_000016.9:g.89212489C>G , CM000678.1:g.89212489C>G	GRCh37
NC_000016.8:g.87739990C>G	NCBI36
NG_031961.1:g.57273C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000317447.9:c.1613+32C>G	ENSP00000320646.4:n.1613+32C>G
ENST00000614302.5:c.1613+32C>G MANE Select	ENSP00000479130.1:n.1613+32C>G
ENST00000649953.1:c.1823+32C>G	ENSP00000497456.1:n.1823+32C>G
ENST00000317447.8:c.1613+32C>G	ENSP00000320646.4:n.1613+32C>G
ENST00000378345.8:c.818+32C>G	ENSP00000367596.4:n.818+32C>G
ENST00000406948.7:c.1613+32C>G	ENSP00000384627.3:n.1613+32C>G
ENST00000535176.1:c.100+32C>G
ENST00000537116.5:n.739+32C>G
ENST00000537155.1:n.353+32C>G
ENST00000542688.5:c.*357+32C>G	ENSP00000446281.1:n.*357+32C>G
ENST00000614302.4:c.1613+32C>G	ENSP00000479130.1:n.1613+32C>G
NM_001127214.3:c.1613+32C>G	NP_001120686.1:n.1613+32C>G
NM_001243279.2:c.1613+32C>G	NP_001230208.1:n.1613+32C>G
NM_001284316.1:c.818+32C>G	NP_001271245.1:n.818+32C>G
NM_174917.4:c.1613+32C>G	NP_777577.2:n.1613+32C>G
NR_045667.2:n.739+32C>G
NR_104293.1:n.2047+32C>G
XM_005256293.1:c.1613+32C>G	XP_005256350.1:n.1613+32C>G
XM_011522942.1:c.1613+32C>G	XP_011521244.1:n.1613+32C>G
XM_011522943.1:c.1613+32C>G	XP_011521245.1:n.1613+32C>G
XR_933239.1:n.2054+32C>G
XR_933240.1:n.2051+32C>G
XR_933241.1:n.1808+32C>G
NR_147928.1:n.2091+32C>G
NR_147929.1:n.1845+32C>G
XM_005256293.2:c.1613+32C>G	XP_005256350.1:n.1613+32C>G
XM_017023018.1:c.1613+32C>G	XP_016878507.1:n.1613+32C>G
XM_017023019.1:c.1613+32C>G	XP_016878508.1:n.1613+32C>G
XM_017023020.2:c.-3492+32C>G	XP_016878509.1:n.-3492+32C>G
XM_017023022.1:c.746+32C>G	XP_016878511.1:n.746+32C>G
XM_024450186.1:c.818+32C>G	XP_024305954.1:n.818+32C>G
XM_024450187.1:c.818+32C>G	XP_024305955.1:n.818+32C>G
XR_001751864.2:n.1860+32C>G
XR_001751865.1:n.1807+32C>G
XR_933240.3:n.2050+32C>G
NM_001127214.4:c.1613+32C>G	NP_001120686.1:n.1613+32C>G
NM_001243279.3:c.1613+32C>G MANE Select	NP_001230208.1:n.1613+32C>G
NM_001284316.2:c.818+32C>G	NP_001271245.1:n.818+32C>G
NM_174917.5:c.1613+32C>G	NP_777577.2:n.1613+32C>G
NR_104293.2:n.2004+32C>G
NR_147928.2:n.2048+32C>G
NR_147929.2:n.1802+32C>G