Canonical Allele Identifier: CA397150700
Gene: ACSF3 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

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