Canonical Allele Identifier: CA8238202

Gene: ACSF3

Linked Data

• dbSNP Id: rs760278262
• ExAC: 16:89211675 G / A
• gnomAD v2: 16-89211675-G-A
• gnomAD v3: 16-89145267-G-A
• gnomAD v4: 16-89145267-G-A
• MyVariant Identifiers: chr16:g.89211675G>A (hg19) ; chr16:g.89145267G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89145267G>A , CM000678.2:g.89145267G>A	GRCh38
NC_000016.9:g.89211675G>A , CM000678.1:g.89211675G>A	GRCh37
NC_000016.8:g.87739176G>A	NCBI36
NG_031961.1:g.56459G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000317447.9:c.1367G>A	ENSP00000320646.4:p.Gly456Glu
ENST00000614302.5:c.1367G>A MANE Select	ENSP00000479130.1:p.Gly456Glu
ENST00000649953.1:c.1577G>A	ENSP00000497456.1:p.Gly526Glu
ENST00000317447.8:c.1367G>A	ENSP00000320646.4:p.Gly456Glu
ENST00000378345.8:c.572G>A	ENSP00000367596.4:p.Gly191Glu
ENST00000406948.7:c.1367G>A	ENSP00000384627.3:p.Gly456Glu
ENST00000537116.5:n.493G>A
ENST00000537155.1:n.107G>A
ENST00000542688.5:c.*111G>A	ENSP00000446281.1:n.*111G>A
ENST00000544543.5:c.572G>A	ENSP00000442781.1:p.Gly191Glu
ENST00000562204.1:n.340G>A
ENST00000614302.4:c.1367G>A	ENSP00000479130.1:p.Gly456Glu
NM_001127214.3:c.1367G>A	NP_001120686.1:p.Gly456Glu
NM_001243279.2:c.1367G>A	NP_001230208.1:p.Gly456Glu
NM_001284316.1:c.572G>A	NP_001271245.1:p.Gly191Glu
NM_174917.4:c.1367G>A	NP_777577.2:p.Gly456Glu
NR_045667.2:n.493G>A
NR_104293.1:n.1801G>A
XM_005256293.1:c.1367G>A	XP_005256350.1:p.Gly456Glu
XM_011522942.1:c.1367G>A	XP_011521244.1:p.Gly456Glu
XM_011522943.1:c.1367G>A	XP_011521245.1:p.Gly456Glu
XR_933239.1:n.1808G>A
XR_933240.1:n.1805G>A
XR_933241.1:n.1562G>A
NR_147928.1:n.1845G>A
NR_147929.1:n.1599G>A
XM_005256293.2:c.1367G>A	XP_005256350.1:p.Gly456Glu
XM_017023018.1:c.1367G>A	XP_016878507.1:p.Gly456Glu
XM_017023019.1:c.1367G>A	XP_016878508.1:p.Gly456Glu
XM_017023020.2:c.-3738G>A	XP_016878509.1:n.-3738G>A
XM_017023022.1:c.500G>A	XP_016878511.1:p.Gly167Glu
XM_024450186.1:c.572G>A	XP_024305954.1:p.Gly191Glu
XM_024450187.1:c.572G>A	XP_024305955.1:p.Gly191Glu
XR_001751864.2:n.1614G>A
XR_001751865.1:n.1561G>A
XR_933240.3:n.1804G>A
NM_001127214.4:c.1367G>A	NP_001120686.1:p.Gly456Glu
NM_001243279.3:c.1367G>A MANE Select	NP_001230208.1:p.Gly456Glu
NM_001284316.2:c.572G>A	NP_001271245.1:p.Gly191Glu
NM_174917.5:c.1367G>A	NP_777577.2:p.Gly456Glu
NR_104293.2:n.1758G>A
NR_147928.2:n.1802G>A
NR_147929.2:n.1556G>A