Canonical Allele Identifier: CA497148437

Gene: ACSF3

Linked Data

• dbSNP Id: rs1465722872
• gnomAD v2: 16-89220525-C-T
• gnomAD v4: 16-89154117-C-T
• MyVariant Identifiers: chr16:g.89220525C>T (hg19) ; chr16:g.89154117C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89154117C>T , CM000678.2:g.89154117C>T	GRCh38
NC_000016.9:g.89220525C>T , CM000678.1:g.89220525C>T	GRCh37
NC_000016.8:g.87748026C>T	NCBI36
NG_031961.1:g.65309C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317447.9:c.1641C>T	ENSP00000320646.4:p.Pro547=
ENST00000614302.5:c.1641C>T MANE Select	ENSP00000479130.1:p.Pro547=
ENST00000649953.1:c.1851C>T	ENSP00000497456.1:p.Pro617=
ENST00000317447.8:c.1641C>T	ENSP00000320646.4:p.Pro547=
ENST00000378345.8:c.846C>T	ENSP00000367596.4:p.Pro282=
ENST00000393145.5:n.6551C>T
ENST00000406948.7:c.1641C>T	ENSP00000384627.3:p.Pro547=
ENST00000537116.5:n.767C>T
ENST00000537155.1:n.381C>T
ENST00000542688.5:c.*385C>T	ENSP00000446281.1:n.*385C>T
ENST00000614302.4:c.1641C>T	ENSP00000479130.1:p.Pro547=
NM_001127214.3:c.1641C>T	NP_001120686.1:p.Pro547=
NM_001243279.2:c.1641C>T	NP_001230208.1:p.Pro547=
NM_001284316.1:c.846C>T	NP_001271245.1:p.Pro282=
NM_174917.4:c.1641C>T	NP_777577.2:p.Pro547=
NR_045667.2:n.767C>T
NR_104293.1:n.2075C>T
XR_933239.1:n.2082C>T
XR_933240.1:n.2079C>T
XR_933241.1:n.1836C>T
NR_147928.1:n.2119C>T
NR_147929.1:n.1873C>T
XM_017023020.2:c.-3464C>T	XP_016878509.1:n.-3464C>T
XM_024450187.1:c.846C>T	XP_024305955.1:p.Pro282=
XR_001751864.2:n.1888C>T
XR_933240.3:n.2078C>T
NM_001127214.4:c.1641C>T	NP_001120686.1:p.Pro547=
NM_001243279.3:c.1641C>T MANE Select	NP_001230208.1:p.Pro547=
NM_001284316.2:c.846C>T	NP_001271245.1:p.Pro282=
NM_174917.5:c.1641C>T	NP_777577.2:p.Pro547=
NR_104293.2:n.2032C>T
NR_147928.2:n.2076C>T
NR_147929.2:n.1830C>T