Canonical Allele Identifier: CA8238388
Community Standard Title: NM_001243279.3(ACSF3):c.*10C>T
Gene: ACSF3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89154217C>T , CM000678.2:g.89154217C>T GRCh38
NC_000016.9:g.89220625C>T , CM000678.1:g.89220625C>T GRCh37
NC_000016.8:g.87748126C>T NCBI36
NG_031961.1:g.65409C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001243279.3:c.*10C>T MANE Select NP_001230208.1:n.*10C>T
ENST00000614302.5:c.*10C>T MANE Select ENSP00000479130.1:n.*10C>T
NM_001127214.3:c.*10C>T NP_001120686.1:n.*10C>T
NM_001127214.4:c.*10C>T NP_001120686.1:n.*10C>T
NM_001243279.2:c.*10C>T NP_001230208.1:n.*10C>T
NM_001284316.1:c.*10C>T NP_001271245.1:n.*10C>T
NM_001284316.2:c.*10C>T NP_001271245.1:n.*10C>T
NM_174917.4:c.*10C>T NP_777577.2:n.*10C>T
NM_174917.5:c.*10C>T NP_777577.2:n.*10C>T
NR_045667.2:n.867C>T
NR_104293.1:n.2175C>T
NR_104293.2:n.2132C>T
NR_147928.1:n.2219C>T
NR_147928.2:n.2176C>T
NR_147929.1:n.1973C>T
NR_147929.2:n.1930C>T
ENST00000317447.8:c.*10C>T ENSP00000320646.4:n.*10C>T
ENST00000317447.9:c.*10C>T ENSP00000320646.4:n.*10C>T
ENST00000378345.8:c.*10C>T ENSP00000367596.4:n.*10C>T
ENST00000393145.5:n.6651C>T
ENST00000406948.7:c.*10C>T ENSP00000384627.3:n.*10C>T
ENST00000537116.5:n.867C>T
ENST00000537155.1:n.481C>T
ENST00000542688.5:c.*485C>T ENSP00000446281.1:n.*485C>T
ENST00000614302.4:c.*10C>T ENSP00000479130.1:n.*10C>T
ENST00000649953.1:c.*10C>T ENSP00000497456.1:n.*10C>T
XM_017023020.2:c.-3364C>T XP_016878509.1:n.-3364C>T
XM_024450187.1:c.*10C>T XP_024305955.1:n.*10C>T
XR_001751864.2:n.1988C>T
XR_933239.1:n.2182C>T
XR_933240.1:n.2179C>T
XR_933240.3:n.2178C>T
XR_933241.1:n.1936C>T