Canonical Allele Identifier: CA391629703
Gene: ACTC1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34792099A>C , CM000677.2:g.34792099A>C GRCh38
NC_000015.9:g.35084300A>C , CM000677.1:g.35084300A>C GRCh37
NC_000015.8:g.32871592A>C NCBI36
NG_007553.1:g.8628T>G , LRG_388:g.8628T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000290378.6:c.799T>G MANE Select ENSP00000290378.4:p.Ser267Ala
ENST00000647798.1:n.893T>G
ENST00000650163.1:n.879T>G
ENST00000290378.4:c.799T>G ENSP00000290378.4:p.Ser267Ala
ENST00000557860.1:n.489T>G
ENST00000560563.1:n.298T>G
NM_005159.4:c.799T>G , LRG_388t1:c.799T>G NP_005150.1:p.Ser267Ala
NR_120329.1:n.299+14668A>C
NM_005159.5:c.799T>G MANE Select NP_005150.1:p.Ser267Ala