Canonical Allele Identifier: CA397150386

Gene: ACSF3

Linked Data

• dbSNP Id: rs1175438832
• MyVariant Identifiers: chr16:g.89220503T>G (hg19) ; chr16:g.89154095T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89154095T>G , CM000678.2:g.89154095T>G	GRCh38
NC_000016.9:g.89220503T>G , CM000678.1:g.89220503T>G	GRCh37
NC_000016.8:g.87748004T>G	NCBI36
NG_031961.1:g.65287T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000317447.9:c.1619T>G	ENSP00000320646.4:p.Val540Gly
ENST00000614302.5:c.1619T>G MANE Select	ENSP00000479130.1:p.Val540Gly
ENST00000649953.1:c.1829T>G	ENSP00000497456.1:p.Val610Gly
ENST00000317447.8:c.1619T>G	ENSP00000320646.4:p.Val540Gly
ENST00000378345.8:c.824T>G	ENSP00000367596.4:p.Val275Gly
ENST00000393145.5:n.6529T>G
ENST00000406948.7:c.1619T>G	ENSP00000384627.3:p.Val540Gly
ENST00000537116.5:n.745T>G
ENST00000537155.1:n.359T>G
ENST00000542688.5:c.*363T>G	ENSP00000446281.1:n.*363T>G
ENST00000614302.4:c.1619T>G	ENSP00000479130.1:p.Val540Gly
NM_001127214.3:c.1619T>G	NP_001120686.1:p.Val540Gly
NM_001243279.2:c.1619T>G	NP_001230208.1:p.Val540Gly
NM_001284316.1:c.824T>G	NP_001271245.1:p.Val275Gly
NM_174917.4:c.1619T>G	NP_777577.2:p.Val540Gly
NR_045667.2:n.745T>G
NR_104293.1:n.2053T>G
XR_933239.1:n.2060T>G
XR_933240.1:n.2057T>G
XR_933241.1:n.1814T>G
NR_147928.1:n.2097T>G
NR_147929.1:n.1851T>G
XM_017023020.2:c.-3486T>G	XP_016878509.1:n.-3486T>G
XM_024450187.1:c.824T>G	XP_024305955.1:p.Val275Gly
XR_001751864.2:n.1866T>G
XR_933240.3:n.2056T>G
NM_001127214.4:c.1619T>G	NP_001120686.1:p.Val540Gly
NM_001243279.3:c.1619T>G MANE Select	NP_001230208.1:p.Val540Gly
NM_001284316.2:c.824T>G	NP_001271245.1:p.Val275Gly
NM_174917.5:c.1619T>G	NP_777577.2:p.Val540Gly
NR_104293.2:n.2010T>G
NR_147928.2:n.2054T>G
NR_147929.2:n.1808T>G