Canonical Allele Identifier: CA397150895

Gene: ACSF3

Linked Data

• dbSNP Id: rs1317574765
• MyVariant Identifiers: chr16:g.89220598C>T (hg19) ; chr16:g.89154190C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89154190C>T , CM000678.2:g.89154190C>T	GRCh38
NC_000016.9:g.89220598C>T , CM000678.1:g.89220598C>T	GRCh37
NC_000016.8:g.87748099C>T	NCBI36
NG_031961.1:g.65382C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317447.9:c.1714C>T	ENSP00000320646.4:p.His572Tyr
ENST00000614302.5:c.1714C>T MANE Select	ENSP00000479130.1:p.His572Tyr
ENST00000649953.1:c.1924C>T	ENSP00000497456.1:p.His642Tyr
ENST00000317447.8:c.1714C>T	ENSP00000320646.4:p.His572Tyr
ENST00000378345.8:c.919C>T	ENSP00000367596.4:p.His307Tyr
ENST00000393145.5:n.6624C>T
ENST00000406948.7:c.1714C>T	ENSP00000384627.3:p.His572Tyr
ENST00000537116.5:n.840C>T
ENST00000537155.1:n.454C>T
ENST00000542688.5:c.*458C>T	ENSP00000446281.1:n.*458C>T
ENST00000614302.4:c.1714C>T	ENSP00000479130.1:p.His572Tyr
NM_001127214.3:c.1714C>T	NP_001120686.1:p.His572Tyr
NM_001243279.2:c.1714C>T	NP_001230208.1:p.His572Tyr
NM_001284316.1:c.919C>T	NP_001271245.1:p.His307Tyr
NM_174917.4:c.1714C>T	NP_777577.2:p.His572Tyr
NR_045667.2:n.840C>T
NR_104293.1:n.2148C>T
XR_933239.1:n.2155C>T
XR_933240.1:n.2152C>T
XR_933241.1:n.1909C>T
NR_147928.1:n.2192C>T
NR_147929.1:n.1946C>T
XM_017023020.2:c.-3391C>T	XP_016878509.1:n.-3391C>T
XM_024450187.1:c.919C>T	XP_024305955.1:p.His307Tyr
XR_001751864.2:n.1961C>T
XR_933240.3:n.2151C>T
NM_001127214.4:c.1714C>T	NP_001120686.1:p.His572Tyr
NM_001243279.3:c.1714C>T MANE Select	NP_001230208.1:p.His572Tyr
NM_001284316.2:c.919C>T	NP_001271245.1:p.His307Tyr
NM_174917.5:c.1714C>T	NP_777577.2:p.His572Tyr
NR_104293.2:n.2105C>T
NR_147928.2:n.2149C>T
NR_147929.2:n.1903C>T