Canonical Allele Identifier: CA8238374
Gene: ACSF3 HGNC NCBI

Linked Data

dbSNP Id: rs773707422

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89154159G>T , CM000678.2:g.89154159G>T GRCh38
NC_000016.9:g.89220567G>T , CM000678.1:g.89220567G>T GRCh37
NC_000016.8:g.87748068G>T NCBI36
NG_031961.1:g.65351G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000317447.9:c.1683G>T ENSP00000320646.4:p.Met561Ile
ENST00000614302.5:c.1683G>T MANE Select ENSP00000479130.1:p.Met561Ile
ENST00000649953.1:c.1893G>T ENSP00000497456.1:p.Met631Ile
ENST00000317447.8:c.1683G>T ENSP00000320646.4:p.Met561Ile
ENST00000378345.8:c.888G>T ENSP00000367596.4:p.Met296Ile
ENST00000393145.5:n.6593G>T
ENST00000406948.7:c.1683G>T ENSP00000384627.3:p.Met561Ile
ENST00000537116.5:n.809G>T
ENST00000537155.1:n.423G>T
ENST00000542688.5:c.*427G>T ENSP00000446281.1:n.*427G>T
ENST00000614302.4:c.1683G>T ENSP00000479130.1:p.Met561Ile
NM_001127214.3:c.1683G>T NP_001120686.1:p.Met561Ile
NM_001243279.2:c.1683G>T NP_001230208.1:p.Met561Ile
NM_001284316.1:c.888G>T NP_001271245.1:p.Met296Ile
NM_174917.4:c.1683G>T NP_777577.2:p.Met561Ile
NR_045667.2:n.809G>T
NR_104293.1:n.2117G>T
XR_933239.1:n.2124G>T
XR_933240.1:n.2121G>T
XR_933241.1:n.1878G>T
NR_147928.1:n.2161G>T
NR_147929.1:n.1915G>T
XM_017023020.2:c.-3422G>T XP_016878509.1:n.-3422G>T
XM_024450187.1:c.888G>T XP_024305955.1:p.Met296Ile
XR_001751864.2:n.1930G>T
XR_933240.3:n.2120G>T
NM_001127214.4:c.1683G>T NP_001120686.1:p.Met561Ile
NM_001243279.3:c.1683G>T MANE Select NP_001230208.1:p.Met561Ile
NM_001284316.2:c.888G>T NP_001271245.1:p.Met296Ile
NM_174917.5:c.1683G>T NP_777577.2:p.Met561Ile
NR_104293.2:n.2074G>T
NR_147928.2:n.2118G>T
NR_147929.2:n.1872G>T